6-43097505-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097505
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097505
    reference: chr 6
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.408G>C
  hgvsp: ENST00000470019.1:c.408G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.408G>C
  hgvsp: ENST00000230419.4:c.408G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.408G>C
  hgvsp: ENST00000471863.1:c.408G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.408G>C
  hgvsp: ENST00000230418.4:c.408G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.408G>C
  hgvsp: ENST00000352931.2:c.408G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.528G>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.408G>C
  hgvsp: ENST00000349241.2:c.408G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.408G>C
  hgvsp: ENST00000345201.2:c.408G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.432G>C
  hgvsp: ENST00000481273.1:c.432G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9711
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser144Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

6-43097507-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097507
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097507
    reference: chr 6
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.410A>G
  hgvsp: ENSP00000419037.1:p.Glu137Gly
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.410A>G
  hgvsp: ENSP00000325462.4:p.Glu137Gly
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.410A>G
  hgvsp: ENSP00000230419.4:p.Glu137Gly
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.410A>G
  hgvsp: ENSP00000325992.4:p.Glu137Gly
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.434A>G
  hgvsp: ENSP00000418754.1:p.Glu145Gly
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.530A>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.410A>G
  hgvsp: ENSP00000420322.1:p.Glu137Gly
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.410A>G
  hgvsp: ENSP00000230418.4:p.Glu137Gly
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.410A>G
  hgvsp: ENSP00000326029.3:p.Glu137Gly
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu145Gly
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

6-43097517-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097517
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097517
    reference: chr 6
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.420C>T
  hgvsp: ENST00000230418.4:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.540C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.420C>T
  hgvsp: ENST00000230419.4:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.420C>T
  hgvsp: ENST00000349241.2:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.420C>T
  hgvsp: ENST00000470019.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.420C>T
  hgvsp: ENST00000345201.2:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.420C>T
  hgvsp: ENST00000471863.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.420C>T
  hgvsp: ENST00000352931.2:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.444C>T
  hgvsp: ENST00000481273.1:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile148Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD

6-43097524-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097524
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097524
    reference: chr 6
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.427C>G
  hgvsp: ENSP00000326029.3:p.Gln143Glu
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.427C>G
  hgvsp: ENSP00000325992.4:p.Gln143Glu
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.427C>G
  hgvsp: ENSP00000230418.4:p.Gln143Glu
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.451C>G
  hgvsp: ENSP00000418754.1:p.Gln151Glu
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.547C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.427C>G
  hgvsp: ENSP00000419037.1:p.Gln143Glu
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.427C>G
  hgvsp: ENSP00000230419.4:p.Gln143Glu
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.427C>G
  hgvsp: ENSP00000420322.1:p.Gln143Glu
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.427C>G
  hgvsp: ENSP00000325462.4:p.Gln143Glu
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln151Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/6-43097528-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097528
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097528
    reference: chr 6
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.551C>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.431C>A
  hgvsp: ENSP00000230418.4:p.Thr144Asn
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.431C>A
  hgvsp: ENSP00000419037.1:p.Thr144Asn
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.431C>A
  hgvsp: ENSP00000326029.3:p.Thr144Asn
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.431C>A
  hgvsp: ENSP00000420322.1:p.Thr144Asn
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.455C>A
  hgvsp: ENSP00000418754.1:p.Thr152Asn
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.431C>A
  hgvsp: ENSP00000230419.4:p.Thr144Asn
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.431C>A
  hgvsp: ENSP00000325462.4:p.Thr144Asn
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.431C>A
  hgvsp: ENSP00000325992.4:p.Thr144Asn
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr152Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

6-43097528-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097528
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097528
    reference: chr 6
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.455C>G
  hgvsp: ENSP00000418754.1:p.Thr152Ser
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.431C>G
  hgvsp: ENSP00000325992.4:p.Thr144Ser
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.431C>G
  hgvsp: ENSP00000420322.1:p.Thr144Ser
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.431C>G
  hgvsp: ENSP00000419037.1:p.Thr144Ser
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.431C>G
  hgvsp: ENSP00000230418.4:p.Thr144Ser
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.431C>G
  hgvsp: ENSP00000230419.4:p.Thr144Ser
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.431C>G
  hgvsp: ENSP00000325462.4:p.Thr144Ser
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.431C>G
  hgvsp: ENSP00000326029.3:p.Thr144Ser
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.551C>G
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr152Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

6-43097529-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097529
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097529
    reference: chr 6
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.432C>G
  hgvsp: ENST00000352931.2:c.432C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.432C>G
  hgvsp: ENST00000470019.1:c.432C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.552C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.456C>G
  hgvsp: ENST00000481273.1:c.456C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.432C>G
  hgvsp: ENST00000230419.4:c.432C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.432C>G
  hgvsp: ENST00000349241.2:c.432C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.432C>G
  hgvsp: ENST00000345201.2:c.432C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.432C>G
  hgvsp: ENST00000471863.1:c.432C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.432C>G
  hgvsp: ENST00000230418.4:c.432C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr152Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

6-43097542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097542
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097542
    reference: chr 6
allele count: 3
allele frequency: 2.473003050037095e-5
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.469C>T
  hgvsp: ENSP00000418754.1:p.Arg157Cys
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.445C>T
  hgvsp: ENSP00000326029.3:p.Arg149Cys
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.445C>T
  hgvsp: ENSP00000230418.4:p.Arg149Cys
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.445C>T
  hgvsp: ENSP00000419037.1:p.Arg149Cys
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.565C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.445C>T
  hgvsp: ENSP00000325462.4:p.Arg149Cys
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.445C>T
  hgvsp: ENSP00000230419.4:p.Arg149Cys
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.445C>T
  hgvsp: ENSP00000420322.1:p.Arg149Cys
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.445C>T
  hgvsp: ENSP00000325992.4:p.Arg149Cys
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg157Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

6-43097543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097543
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097543
    reference: chr 6
allele count: 3
allele frequency: 2.472921509471289e-5
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.446G>A
  hgvsp: ENSP00000325992.4:p.Arg149His
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.446G>A
  hgvsp: ENSP00000419037.1:p.Arg149His
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.446G>A
  hgvsp: ENSP00000326029.3:p.Arg149His
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.446G>A
  hgvsp: ENSP00000230419.4:p.Arg149His
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.446G>A
  hgvsp: ENSP00000230418.4:p.Arg149His
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.446G>A
  hgvsp: ENSP00000420322.1:p.Arg149His
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.446G>A
  hgvsp: ENSP00000325462.4:p.Arg149His
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.566G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.470G>A
  hgvsp: ENSP00000418754.1:p.Arg157His
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg157His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/6-43097550-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097550
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097550
    reference: chr 6
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.453C>A
  hgvsp: ENSP00000420322.1:p.His151Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.573C>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.453C>A
  hgvsp: ENSP00000325992.4:p.His151Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.453C>A
  hgvsp: ENSP00000419037.1:p.His151Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.453C>A
  hgvsp: ENSP00000230419.4:p.His151Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.453C>A
  hgvsp: ENSP00000230418.4:p.His151Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.453C>A
  hgvsp: ENSP00000326029.3:p.His151Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.477C>A
  hgvsp: ENSP00000418754.1:p.His159Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.453C>A
  hgvsp: ENSP00000325462.4:p.His151Gln
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His159Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD

6-43097552-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097552
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097552
    reference: chr 6
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.455T>C
  hgvsp: ENSP00000419037.1:p.Ile152Thr
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.455T>C
  hgvsp: ENSP00000325462.4:p.Ile152Thr
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.455T>C
  hgvsp: ENSP00000230418.4:p.Ile152Thr
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.455T>C
  hgvsp: ENSP00000420322.1:p.Ile152Thr
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.455T>C
  hgvsp: ENSP00000325992.4:p.Ile152Thr
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.575T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.455T>C
  hgvsp: ENSP00000326029.3:p.Ile152Thr
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.455T>C
  hgvsp: ENSP00000230419.4:p.Ile152Thr
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.479T>C
  hgvsp: ENSP00000418754.1:p.Ile160Thr
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile160Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

6-43097565-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097565
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097565
    reference: chr 6
allele count: 3
allele frequency: 2.478642364955302e-5
allele num: 121034
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.492T>A
  hgvsp: ENST00000481273.1:c.492T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.468T>A
  hgvsp: ENST00000471863.1:c.468T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.468T>A
  hgvsp: ENST00000352931.2:c.468T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.468T>A
  hgvsp: ENST00000230419.4:c.468T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.588T>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.468T>A
  hgvsp: ENST00000470019.1:c.468T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.468T>A
  hgvsp: ENST00000349241.2:c.468T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.468T>A
  hgvsp: ENST00000230418.4:c.468T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.468T>A
  hgvsp: ENST00000345201.2:c.468T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29440
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
hgvs: c.492T>A
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/6-43097566-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097566
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097566
    reference: chr 6
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.469C>A
  hgvsp: ENST00000349241.2:c.469C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.589C>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.493C>A
  hgvsp: ENST00000481273.1:c.493C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.469C>A
  hgvsp: ENST00000470019.1:c.469C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.469C>A
  hgvsp: ENST00000352931.2:c.469C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.469C>A
  hgvsp: ENST00000471863.1:c.469C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.469C>A
  hgvsp: ENST00000230419.4:c.469C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.469C>A
  hgvsp: ENST00000345201.2:c.469C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.469C>A
  hgvsp: ENST00000230418.4:c.469C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
hgvs: c.493C>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

6-43097566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097566
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097566
    reference: chr 6
allele count: 4
allele frequency: 3.305566574110803e-5
allele num: 121008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.469C>T
  hgvsp: ENSP00000230418.4:p.Arg157Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.589C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.469C>T
  hgvsp: ENSP00000419037.1:p.Arg157Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.469C>T
  hgvsp: ENSP00000325462.4:p.Arg157Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.493C>T
  hgvsp: ENSP00000418754.1:p.Arg165Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.469C>T
  hgvsp: ENSP00000420322.1:p.Arg157Ter
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.469C>T
  hgvsp: ENSP00000325992.4:p.Arg157Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.469C>T
  hgvsp: ENSP00000326029.3:p.Arg157Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.469C>T
  hgvsp: ENSP00000230419.4:p.Arg157Trp
  variant of: http://identifiers.org/hgnc/9618
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14121
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Arg157Ter
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

6-43097581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097581
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097581
    reference: chr 6
allele count: 5
allele frequency: 4.158004158004158e-5
allele num: 120250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.470+14G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.470+14G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.470+14G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.590+14G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.470+14G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.494+14G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.470+14G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.470+14G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.470+14G>A
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

6-43097597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097597
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097597
    reference: chr 6
allele count: 6
allele frequency: 5.056463846283499e-5
allele num: 118660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.590+30G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.470+30G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.470+30G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.494+30G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.470+30G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.470+30G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.470+30G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.470+30G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.470+30G>A
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8196
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9692
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 26808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

6-43097602-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097602
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097602
    reference: chr 6
allele count: 1
allele frequency: 8.441525552497847e-6
allele num: 118462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.470+35A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.494+35A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.470+35A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.470+35A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.470+35A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.590+35A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.470+35A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.470+35A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.470+35A>T
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8074
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

6-43097604-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097604
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097604
    reference: chr 6
allele count: 1
allele frequency: 8.465680132741865e-6
allele num: 118124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.470+37T>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.590+37T>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.470+37T>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.470+37T>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.494+37T>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.470+37T>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.470+37T>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.470+37T>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.470+37T>G
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7861
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7667
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5646
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

6-43097604-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097604
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097603
    reference: chr 6
allele count: 17
allele frequency: 1.439165622566117e-4
allele num: 118124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.470+39delC
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.470+39delC
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.470+39delC
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.470+39delC
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.470+39delC
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.470+39delC
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.494+39delC
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.470+39delC
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.590+39delC
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9974
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11458
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17369
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7861
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7667
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: TC
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-43097606-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097606
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097606
    reference: chr 6
allele count: 39
allele frequency: 3.319657479443659e-4
allele num: 117482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.470+39C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.470+39C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.470+39C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.470+39C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.590+39C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.494+39C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.470+39C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.470+39C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.470+39C>T
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6921
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13608
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7843
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15833
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

6-43097615-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097615
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097615
    reference: chr 6
allele count: 3
allele frequency: 2.589913151578984e-5
allele num: 115834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.590+48A>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.470+48A>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.470+48A>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.494+48A>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.470+48A>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.470+48A>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.470+48A>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.470+48A>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.470+48A>G
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10094
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16080
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13492
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7339
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

6-43097616-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097616
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097616
    reference: chr 6
allele count: 1
allele frequency: 8.634982039237358e-6
allele num: 115808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.470+49T>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.590+49T>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.470+49T>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.470+49T>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.470+49T>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.470+49T>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.470+49T>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.494+49T>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.470+49T>A
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13504
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5925
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5880
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

6-43097618-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097618
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097618
    reference: chr 6
allele count: 1
allele frequency: 8.755954048753153e-6
allele num: 114208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.470+51T>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.470+51T>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.470+51T>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.494+51T>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.470+51T>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.470+51T>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.470+51T>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.470+51T>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.590+51T>A
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14391
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5600
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6998
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum

6-43097920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097920
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097920
    reference: chr 6
allele count: 1
allele frequency: 9.207255317189945e-6
allele num: 108610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.471-48G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.471-48G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.471-48G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.471-48G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-329G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.471-48G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.591-48G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.495-48G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.471-48G>A
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

6-43097923-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097923
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097923
    reference: chr 6
allele count: 1
allele frequency: 9.206577178736489e-6
allele num: 108618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-326A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.471-45A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.471-45A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.471-45A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.471-45A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.471-45A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.495-45A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.591-45A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.471-45A>T
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

6-43097924-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097924
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097924
    reference: chr 6
allele count: 18
allele frequency: 1.658191465841256e-4
allele num: 108552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-325C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.495-44C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.471-44C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.471-44C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.591-44C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.471-44C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.471-44C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.471-44C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.471-44C>G
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9764
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

6-43097933-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097933
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097933
    reference: chr 6
allele count: 1
allele frequency: 9.206238146968386e-6
allele num: 108622
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.471-35C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.471-35C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.471-35C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.471-35C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.591-35C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.471-35C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-316C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.495-35C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.471-35C>G
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13101
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

6-43097934-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097934
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097934
    reference: chr 6
allele count: 1
allele frequency: 9.212174810229198e-6
allele num: 108552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.471-34C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.471-34C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.471-34C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.471-34C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.471-34C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.591-34C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.471-34C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.495-34C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-315C>T
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

6-43097937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097937
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097937
    reference: chr 6
allele count: 1
allele frequency: 9.206068640447784e-6
allele num: 108624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.471-31C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.471-31C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.471-31C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-312C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.591-31C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.471-31C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.471-31C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.495-31C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.471-31C>T
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

6-43097942-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097942
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097942
    reference: chr 6
allele count: 69
allele frequency: 6.346578366445917e-4
allele num: 108720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.471-26C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.471-26C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.471-26C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.471-26C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.591-26C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-307C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.471-26C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.495-26C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.471-26C>T
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25077
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 9.75e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 30574
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

6-43097944-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097944
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097944
    reference: chr 6
allele count: 2
allele frequency: 1.838573267144696e-5
allele num: 108780
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.471-24C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-305C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.471-24C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.471-24C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.591-24C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.471-24C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.495-24C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.471-24C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.471-24C>G
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

6-43097952-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097952
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097952
    reference: chr 6
allele count: 12
allele frequency: 1.100553945485895e-4
allele num: 109036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.591-16T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-297T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.471-16T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.471-16T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.471-16T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.471-16T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.471-16T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.471-16T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.495-16T>C
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13151
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

6-43097953-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097953
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097953
    reference: chr 6
allele count: 10
allele frequency: 9.168087720263307e-5
allele num: 109074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-296G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.471-15G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.471-15G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.591-15G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.495-15G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.471-15G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.471-15G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.471-15G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.471-15G>A
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

6-43097954-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097954
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097954
    reference: chr 6
allele count: 2
allele frequency: 1.833315000183331e-5
allele num: 109092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.471-14T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.495-14T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.471-14T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.471-14T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.591-14T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-295T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.471-14T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.471-14T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.471-14T>C
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

6-43097959-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097959
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097959
    reference: chr 6
allele count: 1
allele frequency: 9.1471223153196e-6
allele num: 109324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.471-9G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.471-9G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.471-9G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.591-9G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.471-9G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-290G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.471-9G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.471-9G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.495-9G>A
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

6-43097976-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097976
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097976
    reference: chr 6
allele count: 1
allele frequency: 9.008684371734351e-6
allele num: 111004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.599A>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.479A>G
  hgvsp: ENSP00000230419.4:p.Tyr160Cys
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.479A>G
  hgvsp: ENSP00000326029.3:p.Tyr160Cys
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.479A>G
  hgvsp: ENSP00000325992.4:p.Tyr160Cys
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-273A>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.503A>G
  hgvsp: ENSP00000418754.1:p.Tyr168Cys
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.479A>G
  hgvsp: ENSP00000325462.4:p.Tyr160Cys
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.479A>G
  hgvsp: ENSP00000419037.1:p.Tyr160Cys
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.479A>G
  hgvsp: ENSP00000230418.4:p.Tyr160Cys
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25370
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr168Cys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

6-43097978-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097978
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097978
    reference: chr 6
allele count: 3
allele frequency: 2.69779320515818e-5
allele num: 111202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.481C>G
  hgvsp: ENSP00000325992.4:p.Gln161Glu
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.481C>G
  hgvsp: ENSP00000325462.4:p.Gln161Glu
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.481C>G
  hgvsp: ENSP00000230419.4:p.Gln161Glu
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.505C>G
  hgvsp: ENSP00000418754.1:p.Gln169Glu
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.481C>G
  hgvsp: ENSP00000419037.1:p.Gln161Glu
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-271C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.481C>G
  hgvsp: ENSP00000326029.3:p.Gln161Glu
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.481C>G
  hgvsp: ENSP00000230418.4:p.Gln161Glu
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.601C>G
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln169Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

6-43097980-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097980
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097980
    reference: chr 6
allele count: 13
allele frequency: 1.165961110712492e-4
allele num: 111496
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.483A>G
  hgvsp: ENST00000352931.2:c.483A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.483A>G
  hgvsp: ENST00000230419.4:c.483A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.483A>G
  hgvsp: ENST00000349241.2:c.483A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.603A>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.483A>G
  hgvsp: ENST00000230418.4:c.483A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.483A>G
  hgvsp: ENST00000345201.2:c.483A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.483A>G
  hgvsp: ENST00000471863.1:c.483A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-269A>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.507A>G
  hgvsp: ENST00000481273.1:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln169Gln
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

6-43097988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097988
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097988
    reference: chr 6
allele count: 1
allele frequency: 8.862733976176972e-6
allele num: 112832
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.515G>A
  hgvsp: ENSP00000418754.1:p.Arg172Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.491G>A
  hgvsp: ENSP00000325462.4:p.Arg164Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.491G>A
  hgvsp: ENSP00000325992.4:p.Arg164Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.491G>A
  hgvsp: ENSP00000419037.1:p.Arg164Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.491G>A
  hgvsp: ENSP00000230418.4:p.Arg164Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.491G>A
  hgvsp: ENSP00000326029.3:p.Arg164Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-261G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.611G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.491G>A
  hgvsp: ENSP00000230419.4:p.Arg164Gln
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg172Gln
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

6-43097995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097995
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097995
    reference: chr 6
allele count: 217
allele frequency: 1.900774324655758e-3
allele num: 114164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-254G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.498G>A
  hgvsp: ENST00000349241.2:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.498G>A
  hgvsp: ENST00000230419.4:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.498G>A
  hgvsp: ENST00000345201.2:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.498G>A
  hgvsp: ENST00000352931.2:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.498G>A
  hgvsp: ENST00000230418.4:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.618G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.522G>A
  hgvsp: ENST00000481273.1:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.498G>A
  hgvsp: ENST00000471863.1:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13210
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25624
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly174Gly
num of homozygotes: 3
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-43097997-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43097997
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43097997
    reference: chr 6
allele count: 1
allele frequency: 8.742175752701331e-6
allele num: 114388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.500C>A
  hgvsp: ENSP00000326029.3:p.Thr167Asn
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.500C>A
  hgvsp: ENSP00000419037.1:p.Thr167Asn
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.500C>A
  hgvsp: ENSP00000230418.4:p.Thr167Asn
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-252C>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.500C>A
  hgvsp: ENSP00000325462.4:p.Thr167Asn
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.500C>A
  hgvsp: ENSP00000230419.4:p.Thr167Asn
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.524C>A
  hgvsp: ENSP00000418754.1:p.Thr175Asn
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.500C>A
  hgvsp: ENSP00000325992.4:p.Thr167Asn
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.620C>A
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10128
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr175Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/6-43098000-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098000
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098000
    reference: chr 6
allele count: 2
allele frequency: 1.735779625418757e-5
allele num: 115222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.503C>A
  hgvsp: ENSP00000326029.3:p.Pro168His
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.503C>A
  hgvsp: ENSP00000325462.4:p.Pro168His
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.527C>A
  hgvsp: ENSP00000418754.1:p.Pro176His
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.503C>A
  hgvsp: ENSP00000325992.4:p.Pro168His
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.503C>A
  hgvsp: ENSP00000230419.4:p.Pro168His
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.503C>A
  hgvsp: ENSP00000419037.1:p.Pro168His
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-249C>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.623C>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.503C>A
  hgvsp: ENSP00000230418.4:p.Pro168His
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro176His
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

6-43098001-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098001
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098001
    reference: chr 6
allele count: 8
allele frequency: 6.930126994577176e-5
allele num: 115438
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.504C>G
  hgvsp: ENST00000230419.4:c.504C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.504C>G
  hgvsp: ENST00000352931.2:c.504C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.504C>G
  hgvsp: ENST00000230418.4:c.504C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.504C>G
  hgvsp: ENST00000349241.2:c.504C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.624C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.504C>G
  hgvsp: ENST00000345201.2:c.504C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-248C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.528C>G
  hgvsp: ENST00000481273.1:c.528C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.504C>G
  hgvsp: ENST00000471863.1:c.504C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10594
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13258
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro176Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

6-43098001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098001
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098001
    reference: chr 6
allele count: 1
allele frequency: 8.66265874322147e-6
allele num: 115438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.504C>T
  hgvsp: ENST00000230418.4:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-248C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.504C>T
  hgvsp: ENST00000345201.2:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.504C>T
  hgvsp: ENST00000349241.2:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.504C>T
  hgvsp: ENST00000471863.1:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.528C>T
  hgvsp: ENST00000481273.1:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.504C>T
  hgvsp: ENST00000352931.2:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.504C>T
  hgvsp: ENST00000230419.4:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.624C>T
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro176Pro
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

6-43098002-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098002
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098002
    reference: chr 6
allele count: 1
allele frequency: 8.650519031141869e-6
allele num: 115600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.505C>T
  hgvsp: ENSP00000419037.1:p.Leu169Phe
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.529C>T
  hgvsp: ENSP00000418754.1:p.Leu177Phe
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.505C>T
  hgvsp: ENSP00000325462.4:p.Leu169Phe
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.505C>T
  hgvsp: ENSP00000230418.4:p.Leu169Phe
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.505C>T
  hgvsp: ENSP00000325992.4:p.Leu169Phe
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.505C>T
  hgvsp: ENSP00000230419.4:p.Leu169Phe
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.505C>T
  hgvsp: ENSP00000326029.3:p.Leu169Phe
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.625C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-247C>T
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu177Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

6-43098009-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098009
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098009
    reference: chr 6
allele count: 2
allele frequency: 1.708408788054806e-5
allele num: 117068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.512A>G
  hgvsp: ENSP00000325992.4:p.Asp171Gly
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.512A>G
  hgvsp: ENSP00000419037.1:p.Asp171Gly
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.512A>G
  hgvsp: ENSP00000325462.4:p.Asp171Gly
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.632A>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-240A>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.512A>G
  hgvsp: ENSP00000230419.4:p.Asp171Gly
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.512A>G
  hgvsp: ENSP00000326029.3:p.Asp171Gly
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.512A>G
  hgvsp: ENSP00000230418.4:p.Asp171Gly
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.536A>G
  hgvsp: ENSP00000418754.1:p.Asp179Gly
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp179Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

6-43098019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098019
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098019
    reference: chr 6
allele count: 1
allele frequency: 8.431703204047217e-6
allele num: 118600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.522C>T
  hgvsp: ENST00000471863.1:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.522C>T
  hgvsp: ENST00000349241.2:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.522C>T
  hgvsp: ENST00000352931.2:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.522C>T
  hgvsp: ENST00000345201.2:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.642C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.546C>T
  hgvsp: ENST00000481273.1:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.522C>T
  hgvsp: ENST00000230418.4:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-230C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.522C>T
  hgvsp: ENST00000230419.4:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser182Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

6-43098021-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098021
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098021
    reference: chr 6
allele count: 1
allele frequency: 8.40745909771149e-6
allele num: 118942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.644A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.524A>T
  hgvsp: ENSP00000326029.3:p.Asn175Ile
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.524A>T
  hgvsp: ENSP00000230418.4:p.Asn175Ile
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-228A>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.524A>T
  hgvsp: ENSP00000230419.4:p.Asn175Ile
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.548A>T
  hgvsp: ENSP00000418754.1:p.Asn183Ile
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.524A>T
  hgvsp: ENSP00000325462.4:p.Asn175Ile
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.524A>T
  hgvsp: ENSP00000325992.4:p.Asn175Ile
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.524A>T
  hgvsp: ENSP00000419037.1:p.Asn175Ile
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn183Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

6-43098027-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098027
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098027
    reference: chr 6
allele count: 2
allele frequency: 1.672716324038606e-5
allele num: 119566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.530C>T
  hgvsp: ENSP00000230418.4:p.Thr177Ile
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.530C>T
  hgvsp: ENSP00000230419.4:p.Thr177Ile
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.530C>T
  hgvsp: ENSP00000326029.3:p.Thr177Ile
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.650C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.530C>T
  hgvsp: ENSP00000419037.1:p.Thr177Ile
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.530C>T
  hgvsp: ENSP00000325462.4:p.Thr177Ile
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-222C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.554C>T
  hgvsp: ENSP00000418754.1:p.Thr185Ile
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.530C>T
  hgvsp: ENSP00000325992.4:p.Thr177Ile
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr185Ile
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: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-43098031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098031
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098031
    reference: chr 6
allele count: 1
allele frequency: 8.346688034188035e-6
allele num: 119808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.534C>T
  hgvsp: ENST00000352931.2:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.558C>T
  hgvsp: ENST00000481273.1:c.558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.654C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.534C>T
  hgvsp: ENST00000471863.1:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-218C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.534C>T
  hgvsp: ENST00000345201.2:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.534C>T
  hgvsp: ENST00000230419.4:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.534C>T
  hgvsp: ENST00000349241.2:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.534C>T
  hgvsp: ENST00000230418.4:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val186Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

6-43098040-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098040
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098040
    reference: chr 6
allele count: 1
allele frequency: 8.319605983460623e-6
allele num: 120198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.543G>A
  hgvsp: ENST00000230418.4:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.543G>A
  hgvsp: ENST00000349241.2:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.543G>A
  hgvsp: ENST00000230419.4:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.567G>A
  hgvsp: ENST00000481273.1:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.543G>A
  hgvsp: ENST00000352931.2:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-209G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.543G>A
  hgvsp: ENST00000471863.1:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.543G>A
  hgvsp: ENST00000345201.2:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.663G>A
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36468
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys189Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

6-43098043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098043
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098043
    reference: chr 6
allele count: 2
allele frequency: 1.662869780667476e-5
allele num: 120274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.546G>A
  hgvsp: ENST00000230418.4:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.546G>A
  hgvsp: ENST00000230419.4:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-206G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.546G>A
  hgvsp: ENST00000349241.2:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.546G>A
  hgvsp: ENST00000352931.2:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.546G>A
  hgvsp: ENST00000471863.1:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.546G>A
  hgvsp: ENST00000345201.2:c.546G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.666G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.570G>A
  hgvsp: ENST00000481273.1:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu190Glu
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

6-43098044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098044
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098044
    reference: chr 6
allele count: 2
allele frequency: 1.662759182587586e-5
allele num: 120282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.547C>T
  hgvsp: ENSP00000325462.4:p.Arg183Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.571C>T
  hgvsp: ENSP00000418754.1:p.Arg191Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.547C>T
  hgvsp: ENSP00000230419.4:p.Arg183Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-205C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.547C>T
  hgvsp: ENSP00000325992.4:p.Arg183Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.547C>T
  hgvsp: ENSP00000419037.1:p.Arg183Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.547C>T
  hgvsp: ENSP00000326029.3:p.Arg183Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.547C>T
  hgvsp: ENSP00000230418.4:p.Arg183Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.667C>T
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 26796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12904
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg191Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

6-43098045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098045
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098045
    reference: chr 6
allele count: 5
allele frequency: 4.154756365086751e-5
allele num: 120344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.548G>A
  hgvsp: ENSP00000230419.4:p.Arg183Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.548G>A
  hgvsp: ENSP00000419037.1:p.Arg183Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.548G>A
  hgvsp: ENSP00000325462.4:p.Arg183Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.548G>A
  hgvsp: ENSP00000326029.3:p.Arg183Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.668G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.572G>A
  hgvsp: ENSP00000418754.1:p.Arg191Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.548G>A
  hgvsp: ENSP00000325992.4:p.Arg183Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-204G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.548G>A
  hgvsp: ENSP00000230418.4:p.Arg183Gln
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13371
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg191Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

6-43098046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098046
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098046
    reference: chr 6
allele count: 1
allele frequency: 8.307993951780402e-6
allele num: 120366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.549G>A
  hgvsp: ENST00000352931.2:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-203G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.669G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.549G>A
  hgvsp: ENST00000345201.2:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.549G>A
  hgvsp: ENST00000230419.4:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.573G>A
  hgvsp: ENST00000481273.1:c.573G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.549G>A
  hgvsp: ENST00000230418.4:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.549G>A
  hgvsp: ENST00000349241.2:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.549G>A
  hgvsp: ENST00000471863.1:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg191Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

6-43098049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098049
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098049
    reference: chr 6
allele count: 1
allele frequency: 8.304130474498016e-6
allele num: 120422
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.576C>T
  hgvsp: ENST00000481273.1:c.576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.552C>T
  hgvsp: ENST00000349241.2:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.672C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-200C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.552C>T
  hgvsp: ENST00000230418.4:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.552C>T
  hgvsp: ENST00000471863.1:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.552C>T
  hgvsp: ENST00000352931.2:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.552C>T
  hgvsp: ENST00000345201.2:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.552C>T
  hgvsp: ENST00000230419.4:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn192Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

6-43098054-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098054
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098054
    reference: chr 6
allele count: 7
allele frequency: 5.808742988017393e-5
allele num: 120508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.557C>T
  hgvsp: ENSP00000326029.3:p.Thr186Met
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.557C>T
  hgvsp: ENSP00000230418.4:p.Thr186Met
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.557C>T
  hgvsp: ENSP00000325462.4:p.Thr186Met
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.557C>T
  hgvsp: ENSP00000419037.1:p.Thr186Met
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.557C>T
  hgvsp: ENSP00000230419.4:p.Thr186Met
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.581C>T
  hgvsp: ENSP00000418754.1:p.Thr194Met
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.557C>T
  hgvsp: ENSP00000325992.4:p.Thr186Met
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.677C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-195C>T
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26964
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12941
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13396
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr194Met
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

6-43098055-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098055
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098055
    reference: chr 6
allele count: 1
allele frequency: 8.296827293243064e-6
allele num: 120528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.558G>A
  hgvsp: ENST00000230418.4:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.678G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-194G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.558G>A
  hgvsp: ENST00000230419.4:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.558G>A
  hgvsp: ENST00000352931.2:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.558G>A
  hgvsp: ENST00000345201.2:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.558G>A
  hgvsp: ENST00000349241.2:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.582G>A
  hgvsp: ENST00000481273.1:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.558G>A
  hgvsp: ENST00000471863.1:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13395
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr194Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

6-43098056-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098056
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098056
    reference: chr 6
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.559C>G
  hgvsp: ENSP00000326029.3:p.Leu187Val
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.559C>G
  hgvsp: ENSP00000230418.4:p.Leu187Val
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.679C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-193C>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.559C>G
  hgvsp: ENSP00000230419.4:p.Leu187Val
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.583C>G
  hgvsp: ENSP00000418754.1:p.Leu195Val
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.559C>G
  hgvsp: ENSP00000419037.1:p.Leu187Val
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.559C>G
  hgvsp: ENSP00000325462.4:p.Leu187Val
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.559C>G
  hgvsp: ENSP00000325992.4:p.Leu187Val
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu195Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

6-43098059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098059
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098059
    reference: chr 6
allele count: 2
allele frequency: 1.658567329540743e-5
allele num: 120586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.562C>T
  hgvsp: ENSP00000325992.4:p.Arg188Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.562C>T
  hgvsp: ENSP00000419037.1:p.Arg188Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.562C>T
  hgvsp: ENSP00000326029.3:p.Arg188Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.586C>T
  hgvsp: ENSP00000418754.1:p.Arg196Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.682C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.562C>T
  hgvsp: ENSP00000325462.4:p.Arg188Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.562C>T
  hgvsp: ENSP00000230419.4:p.Arg188Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.562C>T
  hgvsp: ENSP00000230418.4:p.Arg188Trp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-190C>T
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg196Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

6-43098060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098060
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098060
    reference: chr 6
allele count: 43
allele frequency: 3.564264518161171e-4
allele num: 120642
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.563G>A
  hgvsp: ENSP00000230418.4:p.Arg188Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.563G>A
  hgvsp: ENSP00000230419.4:p.Arg188Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.587G>A
  hgvsp: ENSP00000418754.1:p.Arg196Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.683G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.563G>A
  hgvsp: ENSP00000325462.4:p.Arg188Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.563G>A
  hgvsp: ENSP00000325992.4:p.Arg188Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.563G>A
  hgvsp: ENSP00000419037.1:p.Arg188Gln
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-189G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.563G>A
  hgvsp: ENSP00000326029.3:p.Arg188Gln
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg196Gln
num of homozygotes: 1
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

6-43098069-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098069
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098069
    reference: chr 6
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.596G>A
  hgvsp: ENSP00000418754.1:p.Gly199Asp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.572G>A
  hgvsp: ENSP00000230418.4:p.Gly191Asp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.572G>A
  hgvsp: ENSP00000325992.4:p.Gly191Asp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.572G>A
  hgvsp: ENSP00000325462.4:p.Gly191Asp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.572G>A
  hgvsp: ENSP00000230419.4:p.Gly191Asp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.572G>A
  hgvsp: ENSP00000419037.1:p.Gly191Asp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.572G>A
  hgvsp: ENSP00000326029.3:p.Gly191Asp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-180G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.692G>A
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13063
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly199Asp
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

6-43098078-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098078
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098078
    reference: chr 6
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.605A>G
  hgvsp: ENSP00000418754.1:p.His202Arg
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.581A>G
  hgvsp: ENSP00000325992.4:p.His194Arg
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.581A>G
  hgvsp: ENSP00000230419.4:p.His194Arg
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.581A>G
  hgvsp: ENSP00000326029.3:p.His194Arg
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.581A>G
  hgvsp: ENSP00000230418.4:p.His194Arg
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.581A>G
  hgvsp: ENSP00000325462.4:p.His194Arg
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.581A>G
  hgvsp: ENSP00000419037.1:p.His194Arg
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-171A>G
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.701A>G
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His202Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

6-43098085-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098085
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098085
    reference: chr 6
allele count: 3
allele frequency: 2.484965955966403e-5
allele num: 120726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.588G>A
  hgvsp: ENST00000471863.1:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.588G>A
  hgvsp: ENST00000352931.2:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-164G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.588G>A
  hgvsp: ENST00000230418.4:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.612G>A
  hgvsp: ENST00000481273.1:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.588G>A
  hgvsp: ENST00000230419.4:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.708G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.588G>A
  hgvsp: ENST00000349241.2:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.588G>A
  hgvsp: ENST00000345201.2:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly204Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

6-43098100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098100
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098100
    reference: chr 6
allele count: 3
allele frequency: 2.486242789895909e-5
allele num: 120664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.603C>T
  hgvsp: ENST00000230419.4:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.603C>T
  hgvsp: ENST00000345201.2:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.603C>T
  hgvsp: ENST00000230418.4:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.723C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.603C>T
  hgvsp: ENST00000349241.2:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.627C>T
  hgvsp: ENST00000481273.1:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.603C>T
  hgvsp: ENST00000352931.2:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-149C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.603C>T
  hgvsp: ENST00000471863.1:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10435
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys209Cys
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

6-43098115-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098115
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098115
    reference: chr 6
allele count: 1
allele frequency: 8.296001327360212e-6
allele num: 120540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.618T>C
  hgvsp: ENST00000349241.2:c.618T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-134T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.618T>C
  hgvsp: ENST00000471863.1:c.618T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.618T>C
  hgvsp: ENST00000345201.2:c.618T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.618T>C
  hgvsp: ENST00000230418.4:c.618T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.618T>C
  hgvsp: ENST00000352931.2:c.618T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.618T>C
  hgvsp: ENST00000230419.4:c.618T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.642T>C
  hgvsp: ENST00000481273.1:c.642T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.738T>C
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe214Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

6-43098116-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098116
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098116
    reference: chr 6
allele count: 3
allele frequency: 2.489048187972919e-5
allele num: 120528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.619G>A
  hgvsp: ENSP00000325462.4:p.Gly207Ser
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.619G>A
  hgvsp: ENSP00000325992.4:p.Gly207Ser
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.643G>A
  hgvsp: ENSP00000418754.1:p.Gly215Ser
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-133G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.739G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.619G>A
  hgvsp: ENSP00000419037.1:p.Gly207Ser
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.619G>A
  hgvsp: ENSP00000230419.4:p.Gly207Ser
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.619G>A
  hgvsp: ENSP00000326029.3:p.Gly207Ser
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.619G>A
  hgvsp: ENSP00000230418.4:p.Gly207Ser
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27006
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly215Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

6-43098117-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098117
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098117
    reference: chr 6
allele count: 1
allele frequency: 8.298755186721992e-6
allele num: 120500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.620G>A
  hgvsp: ENSP00000325462.4:p.Gly207Asp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.620G>A
  hgvsp: ENSP00000230418.4:p.Gly207Asp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.620G>A
  hgvsp: ENSP00000325992.4:p.Gly207Asp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.620G>A
  hgvsp: ENSP00000419037.1:p.Gly207Asp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.620G>A
  hgvsp: ENSP00000326029.3:p.Gly207Asp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-132G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.740G>A
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.644G>A
  hgvsp: ENSP00000418754.1:p.Gly215Asp
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.620G>A
  hgvsp: ENSP00000230419.4:p.Gly207Asp
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly215Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

6-43098124-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098124
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098124
    reference: chr 6
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.651T>C
  hgvsp: ENST00000481273.1:c.651T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.627T>C
  hgvsp: ENST00000230418.4:c.627T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.627T>C
  hgvsp: ENST00000471863.1:c.627T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.747T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.627T>C
  hgvsp: ENST00000352931.2:c.627T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.627T>C
  hgvsp: ENST00000345201.2:c.627T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.627T>C
  hgvsp: ENST00000349241.2:c.627T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-125T>C
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.627T>C
  hgvsp: ENST00000230419.4:c.627T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala217Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

6-43098130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43098130
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 43098130
    reference: chr 6
allele count: 1
allele frequency: 8.316284949187499e-6
allele num: 120246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230419
  ensembl transcript: ENST00000230419
  gene symbol: PTK7
  hgvsc: ENST00000230419.4:c.633C>T
  hgvsp: ENST00000230419.4:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000419037
  ensembl transcript: ENST00000471863
  gene symbol: PTK7
  hgvsc: ENST00000471863.1:c.633C>T
  hgvsp: ENST00000471863.1:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000418754
  ensembl transcript: ENST00000481273
  gene symbol: PTK7
  hgvsc: ENST00000481273.1:c.657C>T
  hgvsp: ENST00000481273.1:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325992
  ensembl transcript: ENST00000345201
  gene symbol: PTK7
  hgvsc: ENST00000345201.2:c.633C>T
  hgvsp: ENST00000345201.2:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000230418
  ensembl transcript: ENST00000230418
  gene symbol: PTK7
  hgvsc: ENST00000230418.4:c.633C>T
  hgvsp: ENST00000230418.4:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000112655
  ensembl transcript: ENST00000487673
  gene symbol: PTK7
  hgvsc: ENST00000487673.1:n.753C>T
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000326029
  ensembl transcript: ENST00000352931
  gene symbol: PTK7
  hgvsc: ENST00000352931.2:c.633C>T
  hgvsp: ENST00000352931.2:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000325462
  ensembl transcript: ENST00000349241
  gene symbol: PTK7
  hgvsc: ENST00000349241.2:c.633C>T
  hgvsp: ENST00000349241.2:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9618
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000112655
  ensembl protein: ENSP00000420322
  ensembl transcript: ENST00000470019
  gene symbol: PTK7
  hgvsc: ENST00000470019.1:c.471-119C>T
  variant of: http://identifiers.org/hgnc/9618
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser219Ser
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40518
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2590
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2428
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.322e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

DP
type: SiteQuality
SIO_000300: 1.757765e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

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

GenotypeQuality
all individuals: 2534
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40528
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9713
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2428
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 715
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2593
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.757679e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.191e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: -1.176e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.38e-1

QD
type: SiteQuality
SIO_000300: 1.184e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 2530
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40572
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2423
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9708
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2592
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.396e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.47e0

FS
type: SiteQuality
SIO_000300: 1.057e0

DP
type: SiteQuality
SIO_000300: 1.757936e6

VQSLOD
type: SiteQuality
SIO_000300: -2.068e0

GenotypeQuality
all individuals: 40576
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 565
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2531
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1442
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2593
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2423
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9709
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

FS
type: SiteQuality
SIO_000300: 2.603e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.295e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 9.23e-1

DP
type: SiteQuality
SIO_000300: 1.757941e6

GenotypeQuality
all individuals: 2423
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40573
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9712
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2587
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.243e0

MQRankSum
type: SiteQuality
SIO_000300: 2.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

QD
type: SiteQuality
SIO_000300: 1.162e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.623e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.757907e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2532
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2587
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40573
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2423
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9712
bin: 6.75e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
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)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.84e-1

DP
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SIO_000300: 1.757907e6

MQRankSum
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 3.243e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.162e1

VQSLOD
type: SiteQuality
SIO_000300: -3.623e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998770504093322e-5
allele num: 66694
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

BaseQRankSum
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SIO_000300: -8.699999999999999e-2

VQSLOD
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SIO_000300: 1.12e0

DP
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InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 5.187e0

MQRankSum
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SIO_000300: 4.39e-1

QD
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SIO_000300: 1.491e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

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: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498560460652591e-5
allele num: 66688
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.16e-1

FS
type: SiteQuality
SIO_000300: 4.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.76e-1

QD
type: SiteQuality
SIO_000300: 1.412e1

DP
type: SiteQuality
SIO_000300: 1.75725e6

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
all individuals: 560
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 1.757238e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.364e1

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: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.755956e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.857e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1421e1

QD
type: SiteQuality
SIO_000300: 1.379e1

VQSLOD
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SIO_000300: -1.214e0

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: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

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

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

InbreedingCoeff
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QD
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ReadPosRankSum
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VQSLOD
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FS
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MQ
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.507076109491902e-5
allele num: 66562
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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QD
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ReadPosRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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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 (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502584445245823e-5
allele num: 66552
num of homozygotes: 0

Latino
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allele count: 0
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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MQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9575
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
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: 6580
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: 3
allele frequency: 2.897990726429675e-4
allele num: 10352
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.222e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.392e1

DP
type: SiteQuality
SIO_000300: 1.749282e6

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

GenotypeQuality
all individuals: 1
bin: 2.5e0
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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bin: 9.75e1
variant carriers: 5

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.499562554680665e-4
allele num: 11430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512081531436175e-5
allele num: 66134
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

FS
type: SiteQuality
SIO_000300: 2.272e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.57e-2

QD
type: SiteQuality
SIO_000300: 1.606e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.711537e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.200760596209287e-5
allele num: 65212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.517608e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 8.858000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.637e-1

QD
type: SiteQuality
SIO_000300: 1.495e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1979
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65116
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.907892392659897e-5
allele num: 11226
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.519e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.131e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

FS
type: SiteQuality
SIO_000300: 3.388e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

DP
type: SiteQuality
SIO_000300: 1.467711e6

MQ
type: SiteQuality
SIO_000300: 5.903e1

GenotypeQuality
all individuals: 141
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 22113
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16116
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540452276788465e-5
allele num: 64916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.435214e6

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.324e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

GenotypeQuality
all individuals: 195
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22113
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 16

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: 1936
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.464723642861544e-4
allele num: 64916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.544640098856966e-4
allele num: 6474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16116
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.39e0

QD
type: SiteQuality
SIO_000300: 1.324e1

DP
type: SiteQuality
SIO_000300: 1.435214e6

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

GenotypeQuality
all individuals: 6320
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1837
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GenotypeQuality
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GenotypeQuality
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variant carriers: 38

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2182
bin: 4.25e1
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GenotypeQuality
all individuals: 19709
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 34
allele frequency: 3.388479170819214e-3
allele num: 10034
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.699784017278618e-4
allele num: 11112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.099045493987852e-5
allele num: 64536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

DP
type: SiteQuality
SIO_000300: 1.405833e6

VQSLOD
type: SiteQuality
SIO_000300: 5.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 461
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3798
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15872
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.037052034824863e-4
allele num: 9878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10886
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

DP
type: SiteQuality
SIO_000300: 1.320623e6

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

GenotypeQuality
all individuals: 133
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GenotypeQuality
all individuals: 2328
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 730
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variant carriers: 0

GenotypeQuality
all individuals: 1704
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GenotypeQuality
all individuals: 2966
bin: 5.25e1
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GenotypeQuality
all individuals: 3804
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variant carriers: 0

GenotypeQuality
all individuals: 4118
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
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East Asian
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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QD
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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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South Asian
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European (Finnish)
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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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African
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele frequency: 1.590533146710777e-5
allele num: 62872
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Other
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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DP
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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MQ
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VQSLOD
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FS
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QD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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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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Other
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East Asian
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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 (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.591393742639804e-5
allele num: 62838
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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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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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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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 62790
num of homozygotes: 0

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

European (Finnish)
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East Asian
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allele frequency: 2.126654064272212e-3
allele num: 8464
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South Asian
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African
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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DP
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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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East Asian
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African
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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Other
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MQ
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FS
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QD
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Finnish)
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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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BaseQRankSum
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QD
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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VQSLOD
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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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European (Non-Finnish)
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African
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Latino
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South Asian
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European (Finnish)
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East Asian
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Other
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MQRankSum
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FS
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DP
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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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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East Asian
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Latino
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African
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South Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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QD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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DP
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MQ
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VQSLOD
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FS
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BaseQRankSum
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9835
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3269
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.084598698481562e-4
allele num: 9220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9360
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.285347043701799e-3
allele num: 778
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.618326e6

VQSLOD
type: SiteQuality
SIO_000300: -3.411e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

FS
type: SiteQuality
SIO_000300: 1.9932e1

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

QD
type: SiteQuality
SIO_000300: 1.067e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30922
bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 12

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3212
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.906395958440568e-4
allele num: 62946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9350
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: 778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

FS
type: SiteQuality
SIO_000300: 1.751e0

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

DP
type: SiteQuality
SIO_000300: 1.625192e6

QD
type: SiteQuality
SIO_000300: 1.278e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 303
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 737
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variant carriers: 0

GenotypeQuality
all individuals: 3215
bin: 7.75e1
variant carriers: 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: 776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.177024482109228e-3
allele num: 8496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62964
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.89e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

DP
type: SiteQuality
SIO_000300: 1.625237e6

FS
type: SiteQuality
SIO_000300: 2.488e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.523e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.186e1

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30942
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1719
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9400
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.354603249352484e-4
allele num: 8494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

FS
type: SiteQuality
SIO_000300: 3.272e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 1.624611e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 130
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variant carriers: 0

GenotypeQuality
all individuals: 1808
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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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2480
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.060445387062566e-4
allele num: 9430
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63036
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.278e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

DP
type: SiteQuality
SIO_000300: 1.628556e6

FS
type: SiteQuality
SIO_000300: 9.308999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.043e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

QD
type: SiteQuality
SIO_000300: 1.058e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 738
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576093809103518e-5
allele num: 63448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e0

VQSLOD
type: SiteQuality
SIO_000300: -4.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.954e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.234e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.02e0

DP
type: SiteQuality
SIO_000300: 1.644795e6

QD
type: SiteQuality
SIO_000300: 1.487e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 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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bin: 9.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574902356053925e-5
allele num: 63496
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.035840066293764e-4
allele num: 9654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.410878976096367e-5
allele num: 10626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.113e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.865e0

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.121e1

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

DP
type: SiteQuality
SIO_000300: 1.646746e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 9
allele frequency: 7.841087297438578e-4
allele num: 11478
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572623765490344e-5
allele num: 63588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10770
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.030502885408079e-4
allele num: 9704
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.339728591483388e-4
allele num: 8548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.111e0

DP
type: SiteQuality
SIO_000300: 1.648879e6

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 124
bin: 4.75e1
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GenotypeQuality
all individuals: 269
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GenotypeQuality
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GenotypeQuality
all individuals: 33
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GenotypeQuality
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GenotypeQuality
all individuals: 505
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9994
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.016053647632595e-4
allele num: 9842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63960
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: 11540
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: 1.658982e6

QD
type: SiteQuality
SIO_000300: 1.311e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.49e-1

FS
type: SiteQuality
SIO_000300: 8.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.304e0

VQSLOD
type: SiteQuality
SIO_000300: 7.49e-1

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 32650
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2515
bin: 9.75e1
variant carriers: 213

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 10037
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3253
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 189
allele frequency: 1.892649709593431e-2
allele num: 9986
num of homozygotes: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.478003825421666e-3
allele num: 11502
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.207729468599034e-3
allele num: 828
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: 10
allele frequency: 1.554098156839586e-4
allele num: 64346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12290
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.187e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.182e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.68e0

DP
type: SiteQuality
SIO_000300: 1.676352e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

GenotypeQuality
all individuals: 3326
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 3.75e1
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
all individuals: 10078
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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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variant carriers: 0

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

GenotypeQuality
all individuals: 156
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12448
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
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: 1
allele frequency: 1.552746809105307e-5
allele num: 64402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.628e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

QD
type: SiteQuality
SIO_000300: 1.58e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.064e-1

DP
type: SiteQuality
SIO_000300: 1.661484e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.491e0

MQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

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

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 27
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2320
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.189e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.677e0

VQSLOD
type: SiteQuality
SIO_000300: 5.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.145e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 1.666839e6

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.05e-1

GenotypeQuality
all individuals: 3270
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3078
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
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variant carriers: 0

GenotypeQuality
all individuals: 744
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 3332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
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variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 5.971337579617834e-4
allele num: 10048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64700
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.62660158633313e-5
allele num: 13112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
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: 8608
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.137e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.804e0

DP
type: SiteQuality
SIO_000300: 1.668461e6

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.467e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
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variant carriers: 0

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

GenotypeQuality
all individuals: 126
bin: 4.25e1
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GenotypeQuality
all individuals: 3270
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 410
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variant carriers: 0

GenotypeQuality
all individuals: 744
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variant carriers: 0

GenotypeQuality
all individuals: 2320
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 166
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variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545595054095827e-5
allele num: 64700
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.804e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.668461e6

FS
type: SiteQuality
SIO_000300: 1.137e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.467e1

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 27
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GenotypeQuality
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GenotypeQuality
all individuals: 3271
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64738
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: 10058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.171e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 5.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 8.32e-1

DP
type: SiteQuality
SIO_000300: 1.669428e6

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
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GenotypeQuality
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bin: 9.75e1
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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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bin: 8.25e1
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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
all individuals: 125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14126
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.735809755250825e-4
allele num: 11522
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -5.871e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e0

MQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

DP
type: SiteQuality
SIO_000300: 1.682982e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e0

FS
type: SiteQuality
SIO_000300: 4.653e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.807e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 7.5e0
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GenotypeQuality
all individuals: 10316
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GenotypeQuality
all individuals: 137
bin: 4.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 115
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GenotypeQuality
all individuals: 3292
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GenotypeQuality
all individuals: 871
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
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GenotypeQuality
all individuals: 35212
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
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GenotypeQuality
all individuals: 3366
bin: 7.25e1
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GenotypeQuality
all individuals: 264
bin: 3.25e1
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GenotypeQuality
all individuals: 244
bin: 2.75e1
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GenotypeQuality
all individuals: 1745
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 3.75e1
variant carriers: 0

Other
type: Population
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: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.523879186858066e-5
allele num: 65622
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15092
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.717e0

InbreedingCoeff
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SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.024e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.122e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.698985e6

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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bin: 7.75e1
variant carriers: 0

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

South Asian
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allele frequency: 6.532532009406845e-5
allele num: 15308
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65732
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.44e-1

ClippingRankSum
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SIO_000300: -8.169999999999999e-1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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BaseQRankSum
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SIO_000300: -2.6e-1

VQSLOD
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SIO_000300: -2.336e-1

DP
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SIO_000300: 1.702298e6

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15712
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.034717164360282e-5
allele num: 65904
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.752e0

DP
type: SiteQuality
SIO_000300: 1.709613e6

BaseQRankSum
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SIO_000300: -4.847e0

MQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 3.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515289268721399e-5
allele num: 65994
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15850
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.889e0

DP
type: SiteQuality
SIO_000300: 1.712083e6

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e0

FS
type: SiteQuality
SIO_000300: 2.4918e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.483e0

QD
type: SiteQuality
SIO_000300: 1.631e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16080
num of homozygotes: 0

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

African
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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: 8620
num of homozygotes: 0

European (Finnish)
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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: 896
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66118
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.381e0

MQRankSum
type: SiteQuality
SIO_000300: -1.153e0

FS
type: SiteQuality
SIO_000300: 1.599e0

DP
type: SiteQuality
SIO_000300: 1.716483e6

VQSLOD
type: SiteQuality
SIO_000300: 4.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

GenotypeQuality
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variant carriers: 2

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

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

Other
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

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.023157385573493e-5
allele num: 66156
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.07e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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 num: 66154
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

South Asian
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Latino
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East Asian
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Other
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
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FS
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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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African
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Latino
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allele num: 11556
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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allele num: 66176
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South Asian
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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QD
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MQRankSum
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ClippingRankSum
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DP
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FS
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

South Asian
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Other
type: Population
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Latino
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European (Non-Finnish)
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African
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East Asian
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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SIO_000300: -1.678e0

MQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

DP
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SIO_000300: 1.718438e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.213e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.510528382828313e-5
allele num: 66202
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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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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BaseQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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QD
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FS
type: SiteQuality
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DP
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ClippingRankSum
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MQRankSum
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SIO_000300: -8.7e-1

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

European (Non-Finnish)
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allele frequency: 9.055783627143202e-5
allele num: 66256
num of homozygotes: 0

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

Other
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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
allele num: 10334
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Latino
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allele frequency: 0.0e0
allele num: 11564
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East Asian
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allele num: 8628
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 3.326e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

QD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.978e1

DP
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SIO_000300: 1.720003e6

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

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

South Asian
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allele frequency: 6.167509559639817e-5
allele num: 16214
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: -3.757e-1

FS
type: SiteQuality
SIO_000300: 6.93e0

DP
type: SiteQuality
SIO_000300: 1.719803e6

InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -8.0e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 904
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: 1.508750754375377e-5
allele num: 66280
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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SIO_000300: -2.504e0

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

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

European (Finnish)
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East Asian
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allele num: 8632
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African
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South Asian
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ReadPosRankSum
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BaseQRankSum
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DP
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QD
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

Other
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African
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European (Non-Finnish)
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South Asian
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East Asian
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allele frequency: 4.865616311399444e-3
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European (Finnish)
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VQSLOD
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DP
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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MQ
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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allele frequency: 0.0e0
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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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East Asian
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allele num: 8632
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MQ
type: SiteQuality
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DP
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MQRankSum
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SIO_000300: -7.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.038e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.104e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 750
bin: 8.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.153846153846154e-5
allele num: 16250
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.865e0

DP
type: SiteQuality
SIO_000300: 1.718685e6

QD
type: SiteQuality
SIO_000300: 1.029e1

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 748
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012501882813677e-5
allele num: 66390
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.444e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

DP
type: SiteQuality
SIO_000300: 1.714873e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 25
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 170
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10360
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
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: 16134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507159005275056e-5
allele num: 66350
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.247e1

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

FS
type: SiteQuality
SIO_000300: 2.095e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

DP
type: SiteQuality
SIO_000300: 1.705854e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.843e0

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3300
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variant carriers: 0

GenotypeQuality
all individuals: 168
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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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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 364
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variant carriers: 0

GenotypeQuality
all individuals: 1733
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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: 3
allele frequency: 1.859427296392711e-4
allele num: 16134
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-1

FS
type: SiteQuality
SIO_000300: 3.274e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.346e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 1.705799e6

QD
type: SiteQuality
SIO_000300: 1.587e1

GenotypeQuality
all individuals: 972
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
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GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 374
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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
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GenotypeQuality
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GenotypeQuality
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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: 188
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16126
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66324
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 7.992e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.61e-1

DP
type: SiteQuality
SIO_000300: 1.705392e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.998e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.835e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.327e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.70032e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.34e-1

FS
type: SiteQuality
SIO_000300: 2.205e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.531e1

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1