1-44086199-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086199
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086199
    reference: chr 1
allele count: 3
allele frequency: 2.472310126582278e-5
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5286G>A
  hgvsp: ENST00000372413.3:c.5286G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4250G>A
  hgvsp: ENST00000429895.1:c.4250G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3463G>A
  hgvsp: ENST00000412568.2:c.3463G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3586G>A
  hgvsp: ENST00000414879.1:c.3586G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3390G>A
  hgvsp: ENST00000422171.2:c.3390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5286G>A
  hgvsp: ENST00000438120.1:c.5286G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3813G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2529G>A
  hgvsp: ENST00000372407.4:c.2529G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5313G>A
  hgvsp: ENST00000372414.3:c.5313G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5313G>A
  hgvsp: ENST00000359947.4:c.5313G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2050G>A
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1771Glu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

1-44086201-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086201
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086201
    reference: chr 1
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5315A>T
  hgvsp: ENSP00000353030.4:p.Tyr1772Phe
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5288A>T
  hgvsp: ENSP00000398822.1:p.Tyr1763Phe
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3392A>T
  hgvsp: ENSP00000387885.2:p.Tyr1131Phe
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3588A>T
  hgvsp: ENSP00000416343.1:p.Tyr1197Phe
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4252A>T
  hgvsp: ENSP00000408952.1:p.Tyr1418Phe
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2052A>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2531A>T
  hgvsp: ENSP00000361484.4:p.Tyr844Phe
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5315A>T
  hgvsp: ENSP00000361491.3:p.Tyr1772Phe
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3465A>T
  hgvsp: ENSP00000391764.2:p.Tyr1156Phe
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3815A>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5288A>T
  hgvsp: ENSP00000361490.3:p.Tyr1763Phe
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr1772Phe
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff

1-44086204-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086204
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086204
    reference: chr 1
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5318A>G
  hgvsp: ENSP00000361491.3:p.Asn1773Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2534A>G
  hgvsp: ENSP00000361484.4:p.Asn845Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3818A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5291A>G
  hgvsp: ENSP00000398822.1:p.Asn1764Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4255A>G
  hgvsp: ENSP00000408952.1:p.Asn1419Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3591A>G
  hgvsp: ENSP00000416343.1:p.Asn1198Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5318A>G
  hgvsp: ENSP00000353030.4:p.Asn1773Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5291A>G
  hgvsp: ENSP00000361490.3:p.Asn1764Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3468A>G
  hgvsp: ENSP00000391764.2:p.Asn1157Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2055A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3395A>G
  hgvsp: ENSP00000387885.2:p.Asn1132Ser
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11445
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1773Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

1-44086209-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086209
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086209
    reference: chr 1
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4260C>T
  hgvsp: ENSP00000408952.1:p.Pro1421Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2539C>T
  hgvsp: ENSP00000361484.4:p.Pro847Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5323C>T
  hgvsp: ENSP00000353030.4:p.Pro1775Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5323C>T
  hgvsp: ENSP00000361491.3:p.Pro1775Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3823C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5296C>T
  hgvsp: ENSP00000361490.3:p.Pro1766Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3400C>T
  hgvsp: ENSP00000387885.2:p.Pro1134Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5296C>T
  hgvsp: ENSP00000398822.1:p.Pro1766Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3473C>T
  hgvsp: ENSP00000391764.2:p.Pro1159Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2060C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3596C>T
  hgvsp: ENSP00000416343.1:p.Pro1200Ser
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1775Ser
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

1-44086225-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086225
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086225
    reference: chr 1
allele count: 12
allele frequency: 9.90932963385027e-5
allele num: 121098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2076G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5339G>A
  hgvsp: ENSP00000353030.4:p.Arg1780His
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4276G>A
  hgvsp: ENSP00000408952.1:p.Arg1426His
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5339G>A
  hgvsp: ENSP00000361491.3:p.Arg1780His
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5312G>A
  hgvsp: ENSP00000398822.1:p.Arg1771His
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3612G>A
  hgvsp: ENSP00000416343.1:p.Arg1205His
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3489G>A
  hgvsp: ENSP00000391764.2:p.Arg1164His
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3416G>A
  hgvsp: ENSP00000387885.2:p.Arg1139His
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2555G>A
  hgvsp: ENSP00000361484.4:p.Arg852His
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5312G>A
  hgvsp: ENSP00000361490.3:p.Arg1771His
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3839G>A
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1780His
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

1-44086225-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086225
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086226
    reference: chr 1
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3417dupT
  hgvsp: ENSP00000387885.2:p.Glu1140Ter
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2556dupT
  hgvsp: ENSP00000361484.4:p.Glu853Ter
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3490dupT
  hgvsp: ENSP00000391764.2:p.Glu1165Ter
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4277dupT
  hgvsp: ENSP00000408952.1:p.Glu1427Ter
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5340dupT
  hgvsp: ENSP00000361491.3:p.Glu1781Ter
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5340dupT
  hgvsp: ENSP00000353030.4:p.Glu1781Ter
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5313dupT
  hgvsp: ENSP00000398822.1:p.Glu1772Ter
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2077dupT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3840dupT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3613dupT
  hgvsp: ENSP00000416343.1:p.Glu1206Ter
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5313dupT
  hgvsp: ENSP00000361490.3:p.Glu1772Ter
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1781Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

1-44086225-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086225
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086225
    reference: chr 1
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: T
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4010
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4616
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5017
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66630
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16322
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-44086241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086241
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086241
    reference: chr 1
allele count: 4
allele frequency: 3.327842393384249e-5
allele num: 120198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3855G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5355G>A
  hgvsp: ENST00000372414.3:c.5355G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3505G>A
  hgvsp: ENST00000412568.2:c.3505G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5328G>A
  hgvsp: ENST00000438120.1:c.5328G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2092G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4292G>A
  hgvsp: ENST00000429895.1:c.4292G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3432G>A
  hgvsp: ENST00000422171.2:c.3432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5355G>A
  hgvsp: ENST00000359947.4:c.5355G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3628G>A
  hgvsp: ENST00000414879.1:c.3628G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5328G>A
  hgvsp: ENST00000372413.3:c.5328G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2571G>A
  hgvsp: ENST00000372407.4:c.2571G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1785Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

1-44086248-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086248
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086248
    reference: chr 1
allele count: 2
allele frequency: 1.669923016548937e-5
allele num: 119766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5335C>T
  hgvsp: ENSP00000398822.1:p.Arg1779Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5362C>T
  hgvsp: ENSP00000361491.3:p.Arg1788Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2578C>T
  hgvsp: ENSP00000361484.4:p.Arg860Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3512C>T
  hgvsp: ENSP00000391764.2:p.Arg1172Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3862C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2099C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3635C>T
  hgvsp: ENSP00000416343.1:p.Arg1213Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3439C>T
  hgvsp: ENSP00000387885.2:p.Arg1147Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5362C>T
  hgvsp: ENSP00000353030.4:p.Arg1788Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4299C>T
  hgvsp: ENSP00000408952.1:p.Arg1434Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5335C>T
  hgvsp: ENSP00000361490.3:p.Arg1779Trp
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1788Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

1-44086253-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086253
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086253
    reference: chr 1
allele count: 2
allele frequency: 1.672436572842975e-5
allele num: 119586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+3G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+3G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+3G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+3G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+3G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+3G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+3G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+3G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+3G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+3G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+3G>A
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.5364+3G>A
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

1-44086255-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086255
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086256
    reference: chr 1
allele count: 2
allele frequency: 1.67372420372571e-5
allele num: 119494
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+6dupT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+6dupT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+6dupT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+6dupT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+6dupT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+6dupT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+6dupT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+6dupT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+6dupT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+6dupT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+6dupT
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.5364+6dupT
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

1-44086264-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086264
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086264
    reference: chr 1
allele count: 1
allele frequency: 8.39560070523046e-6
allele num: 119110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+14T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+14T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+14T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+14T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+14T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+14T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+14T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+14T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+14T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+14T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+14T>C
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

1-44086267-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086267
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086267
    reference: chr 1
allele count: 2
allele frequency: 1.681067814275628e-5
allele num: 118972
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+17A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+17A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+17A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+17A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+17A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+17A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+17A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+17A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+17A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+17A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+17A>G
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-44086267-AGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086267
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086265
    reference: chr 1
allele count: 1
allele frequency: 8.405339071378139e-6
allele num: 118972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+22_5364+23delGT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+22_2101+23delGT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+22_5337+23delGT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+22_5337+23delGT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+22_4301+23delGT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+22_2580+23delGT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+22_3514+23delGT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+22_5364+23delGT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+22_3637+23delGT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+22_3441+23delGT
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+22_3864+23delGT
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: AGT
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-44086270-G-GTGTCCATAACGCTGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086270
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086286
    reference: chr 1
allele count: 1
allele frequency: 8.412551526878102e-6
allele num: 118870
alternate allele: GTGTCCATAACGCTGCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4010
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-44086271-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086271
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086271
    reference: chr 1
allele count: 1
allele frequency: 8.419209267865562e-6
allele num: 118776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+21T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+21T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+21T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+21T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+21T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+21T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+21T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+21T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+21T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+21T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+21T>C
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4615
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-44086271-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086271
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086271
    reference: chr 1
allele count: 2
allele frequency: 1.683841853573112e-5
allele num: 118776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+21T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+21T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+21T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+21T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+21T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+21T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+21T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+21T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+21T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+21T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+21T>G
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

1-44086275-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086275
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086275
    reference: chr 1
allele count: 5
allele frequency: 4.224542904457738e-5
allele num: 118356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+25C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+25C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+25C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+25C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+25C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+25C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+25C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+25C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+25C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+25C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+25C>T
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-44086276-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086276
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086276
    reference: chr 1
allele count: 2
allele frequency: 1.687792199024456e-5
allele num: 118498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+26A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+26A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+26A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+26A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+26A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+26A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+26A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+26A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+26A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+26A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+26A>C
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

1-44086280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086280
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086280
    reference: chr 1
allele count: 1
allele frequency: 8.465680132741865e-6
allele num: 118124
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+30C>T
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

1-44086281-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086281
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086281
    reference: chr 1
allele count: 1
allele frequency: 8.462957634434082e-6
allele num: 118162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+31G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+31G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+31G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+31G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+31G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+31G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+31G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+31G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+31G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+31G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+31G>T
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

1-44086281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086281
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086281
    reference: chr 1
allele count: 1
allele frequency: 8.462957634434082e-6
allele num: 118162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+31G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+31G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+31G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+31G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+31G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+31G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+31G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+31G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+31G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+31G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+31G>A
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7673
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-44086283-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086283
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086283
    reference: chr 1
allele count: 7
allele frequency: 5.926176769387064e-5
allele num: 118120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+33T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+33T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+33T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+33T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+33T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+33T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+33T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+33T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+33T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+33T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+33T>C
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

1-44086287-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086287
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086287
    reference: chr 1
allele count: 1
allele frequency: 8.487667419239845e-6
allele num: 117818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+37T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+37T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+37T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+37T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+37T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+37T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+37T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+37T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+37T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+37T>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+37T>G
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD

1-44086290-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086290
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086290
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 117564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+40C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+40C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+40C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+40C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+40C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+40C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+40C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+40C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+40C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+40C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+40C>T
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4743
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

1-44086293-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086293
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086293
    reference: chr 1
allele count: 1
allele frequency: 8.521516829995738e-6
allele num: 117350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+43C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+43C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+43C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+43C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+43C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+43C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+43C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+43C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+43C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+43C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+43C>G
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

1-44086294-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086294
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086294
    reference: chr 1
allele count: 1
allele frequency: 8.518468038707919e-6
allele num: 117392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+44A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+44A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+44A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+44A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+44A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+44A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+44A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+44A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+44A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+44A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+44A>G
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/1-44086295-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086295
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086295
    reference: chr 1
allele count: 1
allele frequency: 8.530094172239662e-6
allele num: 117232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+45C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+45C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+45C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+45C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+45C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+45C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+45C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+45C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+45C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+45C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+45C>A
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

1-44086295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086295
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086295
    reference: chr 1
allele count: 1
allele frequency: 8.530094172239662e-6
allele num: 117232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+45C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+45C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+45C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+45C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+45C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+45C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+45C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+45C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+45C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+45C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+45C>T
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

1-44086296-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086296
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086296
    reference: chr 1
allele count: 1522
allele frequency: 1.297771107965688e-2
allele num: 117278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+46G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+46G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+46G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+46G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+46G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+46G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+46G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+46G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+46G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+46G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+46G>A
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 6309
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 9.75e1
  variant carriers: 580
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 5.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 6.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11049
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 5.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.25e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 101
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-44086297-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086297
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086297
    reference: chr 1
allele count: 1
allele frequency: 8.534753516318448e-6
allele num: 117168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+47C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+47C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+47C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+47C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+47C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+47C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+47C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+47C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+47C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+47C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+47C>T
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

1-44086301-G-GTGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086301
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086305
    reference: chr 1
allele count: 28
allele frequency: 2.394799863154294e-4
allele num: 116920
alternate allele: GTGGA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3441+55_3441+58dupATGG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5364+55_5364+58dupATGG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5364+55_5364+58dupATGG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3864+55_3864+58dupATGG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3514+55_3514+58dupATGG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5337+55_5337+58dupATGG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2580+55_2580+58dupATGG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2101+55_2101+58dupATGG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4301+55_4301+58dupATGG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3637+55_3637+58dupATGG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5337+55_5337+58dupATGG
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9412
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24732
  bin: 9.75e1
  variant carriers: 28
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-44086467-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086467
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086467
    reference: chr 1
allele count: 1
allele frequency: 8.881152418337803e-6
allele num: 112598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3442-42A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4302-42A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5338-42A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5338-42A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3515-42A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5365-42A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3638-42A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2102-42A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3865-42A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5365-42A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2581-42A>G
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

1-44086469-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086469
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086469
    reference: chr 1
allele count: 1
allele frequency: 8.878471482349599e-6
allele num: 112632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4302-40G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5365-40G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3442-40G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5338-40G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2581-40G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5365-40G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2102-40G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3865-40G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3515-40G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3638-40G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5338-40G>A
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

1-44086473-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086473
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086473
    reference: chr 1
allele count: 217
allele frequency: 1.924646113456558e-3
allele num: 112748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5365-36C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3865-36C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5338-36C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4302-36C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3515-36C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5365-36C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2102-36C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3638-36C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2581-36C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5338-36C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3442-36C>T
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15455
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8389
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 3.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11871
  bin: 3.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 2
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

1-44086474-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086474
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086474
    reference: chr 1
allele count: 22
allele frequency: 1.949559576768339e-4
allele num: 112846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2102-35G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5365-35G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5338-35G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4302-35G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3442-35G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2581-35G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3515-35G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3638-35G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5365-35G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3865-35G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5338-35G>A
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15558
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11917
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8438
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-44086479-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086479
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086479
    reference: chr 1
allele count: 2
allele frequency: 1.770036816765789e-5
allele num: 112992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4302-30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5365-30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3638-30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2581-30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3515-30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2102-30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5338-30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3865-30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5338-30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5365-30C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3442-30C>T
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8685
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-44086481-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086481
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086481
    reference: chr 1
allele count: 1
allele frequency: 8.839857147908491e-6
allele num: 113124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3515-28A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2102-28A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2581-28A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5338-28A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5365-28A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5365-28A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3442-28A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4302-28A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5338-28A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3638-28A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3865-28A>G
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-44086484-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086484
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086484
    reference: chr 1
allele count: 9
allele frequency: 7.952778170507564e-5
allele num: 113168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5338-25C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3638-25C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5338-25C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2581-25C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5365-25C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4302-25C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3515-25C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2102-25C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5365-25C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3442-25C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3865-25C>A
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8811
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-44086496-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086496
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086496
    reference: chr 1
allele count: 4
allele frequency: 3.499685028347449e-5
allele num: 114296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3442-13C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2102-13C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5338-13C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5365-13C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5338-13C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4302-13C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3515-13C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3638-13C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5365-13C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3865-13C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2581-13C>A
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8219
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-44086500-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086500
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086500
    reference: chr 1
allele count: 1
allele frequency: 8.708677326087714e-6
allele num: 114828
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5365-9C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3638-9C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3865-9C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5365-9C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5338-9C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4302-9C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3515-9C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5338-9C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3442-9C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2102-9C>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2581-9C>G
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12089
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-44086506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086506
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086506
    reference: chr 1
allele count: 2
allele frequency: 1.73235166738848e-5
allele num: 115450
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5365-3C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3515-3C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5338-3C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5338-3C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2102-3C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3865-3C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4302-3C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5365-3C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3638-3C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3442-3C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2581-3C>T
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.5365-3C>T
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: C
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-44086514-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086514
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086514
    reference: chr 1
allele count: 1
allele frequency: 8.584280465611372e-6
allele num: 116492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5370G>T
  hgvsp: ENST00000372414.3:c.5370G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3520G>T
  hgvsp: ENST00000412568.2:c.3520G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3643G>T
  hgvsp: ENST00000414879.1:c.3643G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4307G>T
  hgvsp: ENST00000429895.1:c.4307G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5343G>T
  hgvsp: ENST00000438120.1:c.5343G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2586G>T
  hgvsp: ENST00000372407.4:c.2586G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3870G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3447G>T
  hgvsp: ENST00000422171.2:c.3447G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5370G>T
  hgvsp: ENST00000359947.4:c.5370G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2107G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5343G>T
  hgvsp: ENST00000372413.3:c.5343G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1790Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

1-44086530-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086530
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086530
    reference: chr 1
allele count: 2
allele frequency: 1.685828922080987e-5
allele num: 118636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2123C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3536C>T
  hgvsp: ENSP00000391764.2:p.Arg1180Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4323C>T
  hgvsp: ENSP00000408952.1:p.Arg1442Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3463C>T
  hgvsp: ENSP00000387885.2:p.Arg1155Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2602C>T
  hgvsp: ENSP00000361484.4:p.Arg868Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3886C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5386C>T
  hgvsp: ENSP00000361491.3:p.Arg1796Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3659C>T
  hgvsp: ENSP00000416343.1:p.Arg1221Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5386C>T
  hgvsp: ENSP00000353030.4:p.Arg1796Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5359C>T
  hgvsp: ENSP00000398822.1:p.Arg1787Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5359C>T
  hgvsp: ENSP00000361490.3:p.Arg1787Trp
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1796Trp
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-44086531-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086531
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086531
    reference: chr 1
allele count: 1
allele frequency: 8.411419342899921e-6
allele num: 118886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3660G>T
  hgvsp: ENSP00000416343.1:p.Arg1221Leu
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2124G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5387G>T
  hgvsp: ENSP00000361491.3:p.Arg1796Leu
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5387G>T
  hgvsp: ENSP00000353030.4:p.Arg1796Leu
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3464G>T
  hgvsp: ENSP00000387885.2:p.Arg1155Leu
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2603G>T
  hgvsp: ENSP00000361484.4:p.Arg868Leu
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5360G>T
  hgvsp: ENSP00000361490.3:p.Arg1787Leu
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3537G>T
  hgvsp: ENSP00000391764.2:p.Arg1180Leu
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3887G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4324G>T
  hgvsp: ENSP00000408952.1:p.Arg1442Leu
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5360G>T
  hgvsp: ENSP00000398822.1:p.Arg1787Leu
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1796Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-44086532-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086532
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086532
    reference: chr 1
allele count: 11
allele frequency: 9.240901912026614e-5
allele num: 119036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5388G>A
  hgvsp: ENST00000372414.3:c.5388G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3888G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5361G>A
  hgvsp: ENST00000372413.3:c.5361G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3538G>A
  hgvsp: ENST00000412568.2:c.3538G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5388G>A
  hgvsp: ENST00000359947.4:c.5388G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5361G>A
  hgvsp: ENST00000438120.1:c.5361G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3661G>A
  hgvsp: ENST00000414879.1:c.3661G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4325G>A
  hgvsp: ENST00000429895.1:c.4325G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3465G>A
  hgvsp: ENST00000422171.2:c.3465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2125G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2604G>A
  hgvsp: ENST00000372407.4:c.2604G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg1796Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-44086547-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086547
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086547
    reference: chr 1
allele count: 1
allele frequency: 8.306061763875276e-6
allele num: 120394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5376A>C
  hgvsp: ENST00000438120.1:c.5376A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2619A>C
  hgvsp: ENST00000372407.4:c.2619A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3903A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3480A>C
  hgvsp: ENST00000422171.2:c.3480A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4340A>C
  hgvsp: ENST00000429895.1:c.4340A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5403A>C
  hgvsp: ENST00000359947.4:c.5403A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3676A>C
  hgvsp: ENST00000414879.1:c.3676A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5403A>C
  hgvsp: ENST00000372414.3:c.5403A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3553A>C
  hgvsp: ENST00000412568.2:c.3553A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2140A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5376A>C
  hgvsp: ENST00000372413.3:c.5376A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1801Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

1-44086559-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086559
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086559
    reference: chr 1
allele count: 9
allele frequency: 7.443799315170463e-5
allele num: 120906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3688G>A
  hgvsp: ENST00000414879.1:c.3688G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5388G>A
  hgvsp: ENST00000438120.1:c.5388G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3492G>A
  hgvsp: ENST00000422171.2:c.3492G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3565G>A
  hgvsp: ENST00000412568.2:c.3565G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4352G>A
  hgvsp: ENST00000429895.1:c.4352G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5415G>A
  hgvsp: ENST00000359947.4:c.5415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2152G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5415G>A
  hgvsp: ENST00000372414.3:c.5415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3915G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5388G>A
  hgvsp: ENST00000372413.3:c.5388G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2631G>A
  hgvsp: ENST00000372407.4:c.2631G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu1805Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-44086565-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086565
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086565
    reference: chr 1
allele count: 4
allele frequency: 3.304146704113662e-5
allele num: 121060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2158C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3498C>T
  hgvsp: ENST00000422171.2:c.3498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4358C>T
  hgvsp: ENST00000429895.1:c.4358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3921C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2637C>T
  hgvsp: ENST00000372407.4:c.2637C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3571C>T
  hgvsp: ENST00000412568.2:c.3571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5421C>T
  hgvsp: ENST00000359947.4:c.5421C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3694C>T
  hgvsp: ENST00000414879.1:c.3694C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5394C>T
  hgvsp: ENST00000372413.3:c.5394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5421C>T
  hgvsp: ENST00000372414.3:c.5421C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5394C>T
  hgvsp: ENST00000438120.1:c.5394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1807Gly
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-44086566-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086566
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086566
    reference: chr 1
allele count: 2
allele frequency: 1.651855033202286e-5
allele num: 121076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5422G>A
  hgvsp: ENSP00000361491.3:p.Val1808Met
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2159G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5395G>A
  hgvsp: ENSP00000398822.1:p.Val1799Met
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5422G>A
  hgvsp: ENSP00000353030.4:p.Val1808Met
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5395G>A
  hgvsp: ENSP00000361490.3:p.Val1799Met
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3922G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2638G>A
  hgvsp: ENSP00000361484.4:p.Val880Met
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3499G>A
  hgvsp: ENSP00000387885.2:p.Val1167Met
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3695G>A
  hgvsp: ENSP00000416343.1:p.Val1233Met
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3572G>A
  hgvsp: ENSP00000391764.2:p.Val1192Met
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4359G>A
  hgvsp: ENSP00000408952.1:p.Val1454Met
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1808Met
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-44086574-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086574
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086574
    reference: chr 1
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5430G>A
  hgvsp: ENST00000372414.3:c.5430G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3703G>A
  hgvsp: ENST00000414879.1:c.3703G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3507G>A
  hgvsp: ENST00000422171.2:c.3507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5403G>A
  hgvsp: ENST00000438120.1:c.5403G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5403G>A
  hgvsp: ENST00000372413.3:c.5403G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2646G>A
  hgvsp: ENST00000372407.4:c.2646G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5430G>A
  hgvsp: ENST00000359947.4:c.5430G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3930G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4367G>A
  hgvsp: ENST00000429895.1:c.4367G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3580G>A
  hgvsp: ENST00000412568.2:c.3580G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2167G>A
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1810Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-44086577-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086577
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086577
    reference: chr 1
allele count: 2
allele frequency: 1.650655310158133e-5
allele num: 121164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2649A>G
  hgvsp: ENST00000372407.4:c.2649A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5406A>G
  hgvsp: ENST00000438120.1:c.5406A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3706A>G
  hgvsp: ENST00000414879.1:c.3706A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2170A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5433A>G
  hgvsp: ENST00000372414.3:c.5433A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3583A>G
  hgvsp: ENST00000412568.2:c.3583A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5433A>G
  hgvsp: ENST00000359947.4:c.5433A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3933A>G
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3510A>G
  hgvsp: ENST00000422171.2:c.3510A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4370A>G
  hgvsp: ENST00000429895.1:c.4370A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5406A>G
  hgvsp: ENST00000372413.3:c.5406A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1811Thr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

1-44086580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086580
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086580
    reference: chr 1
allele count: 2
allele frequency: 1.650655310158133e-5
allele num: 121164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3586C>T
  hgvsp: ENST00000412568.2:c.3586C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5409C>T
  hgvsp: ENST00000438120.1:c.5409C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5436C>T
  hgvsp: ENST00000359947.4:c.5436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5409C>T
  hgvsp: ENST00000372413.3:c.5409C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3513C>T
  hgvsp: ENST00000422171.2:c.3513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2173C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2652C>T
  hgvsp: ENST00000372407.4:c.2652C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4373C>T
  hgvsp: ENST00000429895.1:c.4373C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5436C>T
  hgvsp: ENST00000372414.3:c.5436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3709C>T
  hgvsp: ENST00000414879.1:c.3709C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3936C>T
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12309
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1812Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-44086601-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086601
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086601
    reference: chr 1
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3957C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5457C>T
  hgvsp: ENST00000372414.3:c.5457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5430C>T
  hgvsp: ENST00000438120.1:c.5430C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5457C>T
  hgvsp: ENST00000359947.4:c.5457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3534C>T
  hgvsp: ENST00000422171.2:c.3534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3607C>T
  hgvsp: ENST00000412568.2:c.3607C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4394C>T
  hgvsp: ENST00000429895.1:c.4394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3730C>T
  hgvsp: ENST00000414879.1:c.3730C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2194C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2673C>T
  hgvsp: ENST00000372407.4:c.2673C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5430C>T
  hgvsp: ENST00000372413.3:c.5430C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1819Ile
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

1-44086602-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086602
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086602
    reference: chr 1
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4395G>T
  hgvsp: ENSP00000408952.1:p.Gly1466Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3731G>T
  hgvsp: ENSP00000416343.1:p.Gly1245Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5431G>T
  hgvsp: ENSP00000361490.3:p.Gly1811Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2674G>T
  hgvsp: ENSP00000361484.4:p.Gly892Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3535G>T
  hgvsp: ENSP00000387885.2:p.Gly1179Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5458G>T
  hgvsp: ENSP00000353030.4:p.Gly1820Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5431G>T
  hgvsp: ENSP00000398822.1:p.Gly1811Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5458G>T
  hgvsp: ENSP00000361491.3:p.Gly1820Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3608G>T
  hgvsp: ENSP00000391764.2:p.Gly1204Trp
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.3958G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2195G>T
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1820Trp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

1-44086644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086644
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086644
    reference: chr 1
allele count: 1
allele frequency: 8.313519445321983e-6
allele num: 120286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5473C>T
  hgvsp: ENSP00000361490.3:p.Pro1825Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5500C>T
  hgvsp: ENSP00000361491.3:p.Pro1834Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3577C>T
  hgvsp: ENSP00000387885.2:p.Pro1193Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3650C>T
  hgvsp: ENSP00000391764.2:p.Pro1218Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3773C>T
  hgvsp: ENSP00000416343.1:p.Pro1259Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4437C>T
  hgvsp: ENSP00000408952.1:p.Pro1480Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2716C>T
  hgvsp: ENSP00000361484.4:p.Pro906Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5473C>T
  hgvsp: ENSP00000398822.1:p.Pro1825Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5500C>T
  hgvsp: ENSP00000353030.4:p.Pro1834Ser
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.4000C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2237C>T
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1834Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-44086649-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086649
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086649
    reference: chr 1
allele count: 1
allele frequency: 8.323761008173934e-6
allele num: 120138
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5505C>A
  hgvsp: ENST00000359947.4:c.5505C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3778C>A
  hgvsp: ENST00000414879.1:c.3778C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2721C>A
  hgvsp: ENST00000372407.4:c.2721C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5505C>A
  hgvsp: ENST00000372414.3:c.5505C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4442C>A
  hgvsp: ENST00000429895.1:c.4442C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5478C>A
  hgvsp: ENST00000372413.3:c.5478C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3655C>A
  hgvsp: ENST00000412568.2:c.3655C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2242C>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3582C>A
  hgvsp: ENST00000422171.2:c.3582C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5478C>A
  hgvsp: ENST00000438120.1:c.5478C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.4005C>A
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1835Ile
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

1-44086651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086651
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086651
    reference: chr 1
allele count: 1
allele frequency: 8.332500083325001e-6
allele num: 120012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2244C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.4007C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3657C>T
  hgvsp: ENSP00000391764.2:p.Thr1220Met
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4444C>T
  hgvsp: ENSP00000408952.1:p.Thr1482Met
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5480C>T
  hgvsp: ENSP00000398822.1:p.Thr1827Met
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5507C>T
  hgvsp: ENSP00000361491.3:p.Thr1836Met
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3780C>T
  hgvsp: ENSP00000416343.1:p.Thr1261Met
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5480C>T
  hgvsp: ENSP00000361490.3:p.Thr1827Met
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5507C>T
  hgvsp: ENSP00000353030.4:p.Thr1836Met
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2723C>T
  hgvsp: ENSP00000361484.4:p.Thr908Met
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3584C>T
  hgvsp: ENSP00000387885.2:p.Thr1195Met
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1836Met
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP

1-44086652-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086652
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086652
    reference: chr 1
allele count: 4
allele frequency: 3.333277778703688e-5
allele num: 120002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2245G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5481G>A
  hgvsp: ENST00000438120.1:c.5481G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5508G>A
  hgvsp: ENST00000372414.3:c.5508G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3781G>A
  hgvsp: ENST00000414879.1:c.3781G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5508G>A
  hgvsp: ENST00000359947.4:c.5508G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3585G>A
  hgvsp: ENST00000422171.2:c.3585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2724G>A
  hgvsp: ENST00000372407.4:c.2724G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4445G>A
  hgvsp: ENST00000429895.1:c.4445G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3658G>A
  hgvsp: ENST00000412568.2:c.3658G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5481G>A
  hgvsp: ENST00000372413.3:c.5481G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.4008G>A
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15840
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1836Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/1-44086669-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086669
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086669
    reference: chr 1
allele count: 1
allele frequency: 8.355196096452384e-6
allele num: 119686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2735+6A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3596+6A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5492+6A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2256+6A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5492+6A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.4019+6A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5519+6A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3792+6A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5519+6A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3669+6A>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4456+6A>C
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.5519+6A>C
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-44086671-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086671
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086671
    reference: chr 1
allele count: 1
allele frequency: 8.363301831563101e-6
allele num: 119570
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5519+8T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5519+8T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3669+8T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5492+8T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5492+8T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2256+8T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.4019+8T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3596+8T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4456+8T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2735+8T>C
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3792+8T>C
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.5519+8T>C
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-44086673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086673
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086673
    reference: chr 1
allele count: 1
allele frequency: 8.382651264942076e-6
allele num: 119294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5519+10G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3792+10G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5519+10G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2256+10G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4456+10G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5492+10G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3669+10G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.4019+10G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5492+10G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3596+10G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2735+10G>A
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7218
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-44086674-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086674
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086674
    reference: chr 1
allele count: 1
allele frequency: 8.392641332080031e-6
allele num: 119152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2256+11C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.4019+11C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5519+11C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4456+11C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5492+11C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3596+11C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3792+11C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3669+11C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5492+11C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5519+11C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2735+11C>T
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-44086675-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086675
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086675
    reference: chr 1
allele count: 17
allele frequency: 1.424859609420836e-4
allele num: 119310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3792+12C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4456+12C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.4019+12C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5519+12C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3669+12C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2256+12C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3596+12C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5492+12C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5492+12C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5519+12C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2735+12C>T
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14383
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8739
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11274
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

1-44086678-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086678
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086678
    reference: chr 1
allele count: 1
allele frequency: 8.384759860477596e-6
allele num: 119264
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5519+15C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5492+15C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3596+15C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3669+15C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.4019+15C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4456+15C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3792+15C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5519+15C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2735+15C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5492+15C>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2256+15C>T
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8677
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

1-44086681-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086681
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086681
    reference: chr 1
allele count: 1
allele frequency: 8.38208915190022e-6
allele num: 119302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3669+18G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5519+18G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5492+18G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3792+18G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3596+18G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5519+18G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4456+18G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2256+18G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2735+18G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5492+18G>A
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.4019+18G>A
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

1-44086685-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086685
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086685
    reference: chr 1
allele count: 1
allele frequency: 8.388980235562565e-6
allele num: 119204
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5519+22G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3669+22G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5492+22G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.4019+22G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5492+22G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3792+22G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5519+22G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2735+22G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4456+22G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2256+22G>T
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3596+22G>T
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-44086687-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44086687
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 44086686
    reference: chr 1
allele count: 1
allele frequency: 8.398138972403716e-6
allele num: 119074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000408952
  ensembl transcript: ENST00000429895
  gene symbol: PTPRF
  hgvsc: ENST00000429895.1:c.4456+28delG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000387885
  ensembl transcript: ENST00000422171
  gene symbol: PTPRF
  hgvsc: ENST00000422171.2:c.3596+28delG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000477970
  gene symbol: PTPRF
  hgvsc: ENST00000477970.1:n.2256+28delG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000353030
  ensembl transcript: ENST00000359947
  gene symbol: PTPRF
  hgvsc: ENST00000359947.4:c.5519+28delG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000391764
  ensembl transcript: ENST00000412568
  gene symbol: PTPRF
  hgvsc: ENST00000412568.2:c.3669+28delG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361491
  ensembl transcript: ENST00000372414
  gene symbol: PTPRF
  hgvsc: ENST00000372414.3:c.5519+28delG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361484
  ensembl transcript: ENST00000372407
  gene symbol: PTPRF
  hgvsc: ENST00000372407.4:c.2735+28delG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl transcript: ENST00000496447
  gene symbol: PTPRF
  hgvsc: ENST00000496447.1:n.4019+28delG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000398822
  ensembl transcript: ENST00000438120
  gene symbol: PTPRF
  hgvsc: ENST00000438120.1:c.5492+28delG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000361490
  ensembl transcript: ENST00000372413
  gene symbol: PTPRF
  hgvsc: ENST00000372413.3:c.5492+28delG
  variant of: http://identifiers.org/hgnc/9670
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142949
  ensembl protein: ENSP00000416343
  ensembl transcript: ENST00000414879
  gene symbol: PTPRF
  hgvsc: ENST00000414879.1:c.3792+28delG
  variant of: http://identifiers.org/hgnc/9670
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11181
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: TG

GenotypeDepth
all individuals: 224
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12320
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4012
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4705
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3263
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5038
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2803
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23884
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4617
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.241435e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.978e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.478e1

FS
type: SiteQuality
SIO_000300: 2.874e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

GenotypeDepth
all individuals: 11446
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4617
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5039
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4011
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23885
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2803
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4706
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12315
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.679e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e0

VQSLOD
type: SiteQuality
SIO_000300: -1.219e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 5.371e0

QD
type: SiteQuality
SIO_000300: 1.181e1

DP
type: SiteQuality
SIO_000300: 2.241432e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeDepth
all individuals: 8930
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4010
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23886
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4617
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5039
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4706
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12313
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.11e-1

DP
type: SiteQuality
SIO_000300: 2.241476e6

QD
type: SiteQuality
SIO_000300: 1.111e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.39e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.919999999999999e-1

GenotypeDepth
all individuals: 502
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3260
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23887
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12289
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4703
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4010
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4616
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5038
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.791e0

VQSLOD
type: SiteQuality
SIO_000300: 4.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.394e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 2.241498e6

QD
type: SiteQuality
SIO_000300: 1.134e1

GenotypeDepth
all individuals: 2604
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4010
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3251
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23891
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 291
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4616
bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.504127269998499e-5
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Latino
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African
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allele frequency: 2.882952142994427e-4
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European (Finnish)
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allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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MQ
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QD
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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Other
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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DP
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MQ
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ClippingRankSum
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BaseQRankSum
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East Asian
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Latino
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Other
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DP
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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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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African
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InbreedingCoeff
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QD
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DP
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FS
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66246
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African
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East Asian
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European (Finnish)
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Other
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Latino
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South Asian
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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East Asian
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European (Finnish)
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South Asian
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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African
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ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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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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European (Finnish)
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South Asian
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Other
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East Asian
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African
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European (Non-Finnish)
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Latino
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
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num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.027825718351652e-5
allele num: 66054
num of homozygotes: 0

African
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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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BaseQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 2.193047e6

ReadPosRankSum
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SIO_000300: 5.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.513912859175826e-5
allele num: 66054
num of homozygotes: 0

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

DP
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SIO_000300: 2.193047e6

InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.785181164337088e-5
allele num: 14738
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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SIO_000300: -5.590000000000001e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.81384573453257e-5
allele num: 14676
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66014
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 3.459e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

DP
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SIO_000300: 2.188993e6

MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.961e1

InbreedingCoeff
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SIO_000300: 3.0e-4

BaseQRankSum
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QD
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VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

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

South Asian
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allele count: 2
allele frequency: 1.362769146906514e-4
allele num: 14676
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66014
num of homozygotes: 0

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

DP
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ClippingRankSum
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ReadPosRankSum
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MQ
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QD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65896
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East Asian
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South Asian
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QD
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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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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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516530178950561e-5
allele num: 65940
num of homozygotes: 0

Latino
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allele frequency: 8.655011251514626e-5
allele num: 11554
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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East Asian
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African
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Other
type: Population
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DP
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.518095700752976e-5
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

South Asian
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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DP
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QD
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FS
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MQRankSum
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3199
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variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518095700752976e-5
allele num: 65872
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 3.114e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.184059e6

MQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

GenotypeQuality
all individuals: 390
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65872
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14222
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.65e0

MQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

FS
type: SiteQuality
SIO_000300: 3.114e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

QD
type: SiteQuality
SIO_000300: 1.351e1

DP
type: SiteQuality
SIO_000300: 2.184059e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.062699256110521e-4
allele num: 65870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14182
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.183499e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.54e0

QD
type: SiteQuality
SIO_000300: 1.379e1

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
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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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bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519572088499878e-5
allele num: 65808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.216e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.608e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 2.265e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 1.492e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 2.181225e6

VQSLOD
type: SiteQuality
SIO_000300: 3.11e-1

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: 1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 2802
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65760
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13756
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.248e-1

QD
type: SiteQuality
SIO_000300: 1.021e1

BaseQRankSum
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SIO_000300: -1.495e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 2.180335e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65708
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.368e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 23908
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variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521467912241731e-5
allele num: 65726
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ReadPosRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.17921e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 7399
bin: 6.25e1
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: 0
allele frequency: 0.0e0
allele num: 13500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65696
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 3.01e0

VQSLOD
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FS
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SIO_000300: 8.129999999999999e-1

QD
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DP
type: SiteQuality
SIO_000300: 2.179232e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522162688748173e-5
allele num: 65696
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.129999999999999e-1

InbreedingCoeff
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SIO_000300: 4.0e-3

BaseQRankSum
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DP
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MQ
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SIO_000300: 5.972e1

QD
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SIO_000300: 1.321e1

ClippingRankSum
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SIO_000300: -3.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

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

GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 4.413599975649103e-4
allele num: 65706
num of homozygotes: 0

Latino
type: Population
allele count: 78
allele frequency: 6.750908776181409e-3
allele num: 11554
num of homozygotes: 0

East Asian
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allele count: 6
allele frequency: 6.944444444444445e-4
allele num: 8640
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.477978125923736e-4
allele num: 13532
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.85480093676815e-3
allele num: 854
num of homozygotes: 0

African
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allele count: 1402
allele frequency: 1.350934669493159e-1
allele num: 10378
num of homozygotes: 101

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.199e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

VQSLOD
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ReadPosRankSum
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SIO_000300: 5.33e-1

ClippingRankSum
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SIO_000300: -2.69e-1

MQ
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SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.516e1

BaseQRankSum
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SIO_000300: -3.714e0

DP
type: SiteQuality
SIO_000300: 2.255396e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 24708
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variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 7.427213309566251e-5
allele num: 13464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65664
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.247457e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.769e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 7.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.082e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65610
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13278
num of homozygotes: 0

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

Latino
type: Population
allele count: 28
allele frequency: 2.423403150424096e-3
allele num: 11554
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.305e1

BaseQRankSum
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SIO_000300: 2.66e-1

ReadPosRankSum
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SIO_000300: -1.098e0

MQ
type: SiteQuality
SIO_000300: 5.814e1

FS
type: SiteQuality
SIO_000300: 1.133e0

MQRankSum
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SIO_000300: -7.17e-1

InbreedingCoeff
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SIO_000300: 1.1e-3

VQSLOD
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SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

DP
type: SiteQuality
SIO_000300: 2.248377e6

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.531071292413267e-5
allele num: 10492
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.842e1

InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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MQRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 9.514747859181732e-5
allele num: 10510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.707e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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QD
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DP
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BaseQRankSum
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SIO_000300: -2.793e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64428
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 9.441087613293052e-4
allele num: 10592
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 206
allele frequency: 2.399254600512462e-2
allele num: 8586
num of homozygotes: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.228501228501228e-3
allele num: 814
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
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BaseQRankSum
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DP
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
all individuals: 2102
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 22

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4285
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.551397809426293e-4
allele num: 64458
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.225490196078431e-3
allele num: 816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 9.767532721234617e-4
allele num: 10238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: -3.33e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

DP
type: SiteQuality
SIO_000300: 1.872592e6

FS
type: SiteQuality
SIO_000300: 6.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
all individuals: 4950
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11044
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variant carriers: 2

GenotypeQuality
all individuals: 3334
bin: 2.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 166
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variant carriers: 0

GenotypeQuality
all individuals: 17236
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550676094777323e-5
allele num: 64488
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.767532721234616e-5
allele num: 10238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10756
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.206e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

DP
type: SiteQuality
SIO_000300: 1.877472e6

QD
type: SiteQuality
SIO_000300: 1.097e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.073e0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
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variant carriers: 0

GenotypeQuality
all individuals: 8096
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variant carriers: 0

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

GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 2108
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64520
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.802e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 1.878948e6

VQSLOD
type: SiteQuality
SIO_000300: 8.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

GenotypeQuality
all individuals: 3858
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4959
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variant carriers: 0

GenotypeQuality
all individuals: 508
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GenotypeQuality
all individuals: 4328
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variant carriers: 0

GenotypeQuality
all individuals: 550
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variant carriers: 0

GenotypeQuality
all individuals: 112
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variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
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GenotypeQuality
all individuals: 2108
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variant carriers: 0

GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 17401
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variant carriers: 0

GenotypeQuality
all individuals: 219
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variant carriers: 0

GenotypeQuality
all individuals: 3381
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8106
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variant carriers: 0

GenotypeQuality
all individuals: 555
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GenotypeQuality
all individuals: 11042
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 2618
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variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.394700139470014e-4
allele num: 64530
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.881533e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.716e0

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

QD
type: SiteQuality
SIO_000300: 1.19e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

GenotypeQuality
all individuals: 138
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3874
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variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 3251
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variant carriers: 0

GenotypeQuality
all individuals: 287
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variant carriers: 0

GenotypeQuality
all individuals: 235
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GenotypeQuality
all individuals: 99
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GenotypeQuality
all individuals: 4984
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 538
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GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 4372
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variant carriers: 0

GenotypeQuality
all individuals: 109
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GenotypeQuality
all individuals: 11043
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 17854
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variant carriers: 0

GenotypeQuality
all individuals: 545
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variant carriers: 0

GenotypeQuality
all individuals: 2626
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.170554115759595e-5
allele num: 64824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

FS
type: SiteQuality
SIO_000300: 1.023e1

VQSLOD
type: SiteQuality
SIO_000300: -5.583e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.8e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.894735e6

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 11041
bin: 9.75e1
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GenotypeQuality
all individuals: 105
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variant carriers: 0

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

GenotypeQuality
all individuals: 8259
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538982424820709e-5
allele num: 64978
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.485e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

DP
type: SiteQuality
SIO_000300: 1.899395e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.556e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

QD
type: SiteQuality
SIO_000300: 1.439e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

GenotypeDepth
all individuals: 514
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
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variant carriers: 0

GenotypeQuality
all individuals: 116
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GenotypeQuality
all individuals: 276
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2628
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11043
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.192e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

BaseQRankSum
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SIO_000300: -7.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.27e-1

DP
type: SiteQuality
SIO_000300: 1.905926e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 11042
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2505
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5015
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2122
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.611508601004719e-5
allele num: 13138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.556e0

VQSLOD
type: SiteQuality
SIO_000300: -9.296e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-2

DP
type: SiteQuality
SIO_000300: 1.916035e6

MQ
type: SiteQuality
SIO_000300: 5.903e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

FS
type: SiteQuality
SIO_000300: 4.669e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 9.82e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 122
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variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 226
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GenotypeQuality
all individuals: 8440
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.860592755214051e-5
allele num: 14576
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514967882680887e-5
allele num: 66008
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 9.6e-1

MQRankSum
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SIO_000300: 1.15e0

BaseQRankSum
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SIO_000300: 2.32e0

ReadPosRankSum
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SIO_000300: 2.11e0

DP
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SIO_000300: 1.940249e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

QD
type: SiteQuality
SIO_000300: 1.44e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513821187441339e-5
allele num: 66058
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

MQRankSum
type: SiteQuality
SIO_000300: 8.38e-1

DP
type: SiteQuality
SIO_000300: 1.941859e6

VQSLOD
type: SiteQuality
SIO_000300: 9.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 11

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3894
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.664699294772844e-4
allele num: 66078
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.103e0

QD
type: SiteQuality
SIO_000300: 1.194e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 1.943716e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.266e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21751
bin: 6.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15866
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505479947007106e-5
allele num: 66424
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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BaseQRankSum
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MQ
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SIO_000300: 5.967e1

MQRankSum
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ReadPosRankSum
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SIO_000300: -2.35e-1

ClippingRankSum
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FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.95938e6

GenotypeDepth
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

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

African
type: Population
allele count: 9
allele frequency: 8.662175168431184e-4
allele num: 10390
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 902
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QD
type: SiteQuality
SIO_000300: 1.242e1

FS
type: SiteQuality
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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SIO_000300: 1.965887e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.62e-1

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 4
allele frequency: 2.445585717779408e-4
allele num: 16356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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Latino
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East Asian
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ReadPosRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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BaseQRankSum
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DP
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GenotypeDepth
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variant carriers: 1

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

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.003634397621121e-5
allele num: 66586
num of homozygotes: 0

South Asian
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Other
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BaseQRankSum
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DP
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MQ
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: -2.8e-1

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

Latino
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Other
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European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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ReadPosRankSum
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VQSLOD
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FS
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QD
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ClippingRankSum
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InbreedingCoeff
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DP
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MQRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.968e1

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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num of homozygotes: 0

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

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

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

African
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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InbreedingCoeff
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DP
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VQSLOD
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FS
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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MQ
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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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bin: 4.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508841813024323e-5
allele num: 66276
num of homozygotes: 0

East Asian
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

Other
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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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East Asian
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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

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

African
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allele frequency: 2.904725019364833e-4
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.509206157561123e-5
allele num: 66260
num of homozygotes: 0

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

Other
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

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

Latino
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European (Non-Finnish)
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allele num: 66156
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South Asian
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Other
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FS
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BaseQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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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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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: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513408801985592e-5
allele num: 66076
num of homozygotes: 0

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

East Asian
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allele frequency: 1.157139551029854e-4
allele num: 8642
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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allele count: 1
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allele num: 66120
num of homozygotes: 0

Latino
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allele frequency: 1.21591106479069e-3
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Other
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DP
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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MQ
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QD
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2593
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.697439875872769e-5
allele num: 10312
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.05e1

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.87392e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.395e0

VQSLOD
type: SiteQuality
SIO_000300: 5.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.326e0

GenotypeQuality
all individuals: 2525
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1866
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3797
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7100
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14058
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11018
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1250
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2596
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1517
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1616
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4039
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512767759893501e-5
allele num: 66104
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15352
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.216e0

MQRankSum
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 2.627e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.872465e6

VQSLOD
type: SiteQuality
SIO_000300: -2.693e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

GenotypeQuality
all individuals: 115
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7016
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11024
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4045
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2462
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2601
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13855
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3820
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4627
bin: 7.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51336299524804e-5
allele num: 66078
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.870649e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.218e0

VQSLOD
type: SiteQuality
SIO_000300: -1.159e0

QD
type: SiteQuality
SIO_000300: 1.157e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

FS
type: SiteQuality
SIO_000300: 2.299e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

GenotypeQuality
all individuals: 1533
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13214
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4637
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2603
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2414
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3835
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4071
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1889
bin: 3.25e1
variant carriers: 0