12-48145734-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48145734
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48145734
    reference: chr 12
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.456G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.520G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.112G>A
  hgvsp: ENSP00000446731.1:p.Glu38Lys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.238G>A
  hgvsp: ENSP00000378764.3:p.Glu80Lys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.112G>A
  hgvsp: ENSP00000448480.1:p.Glu38Lys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.112G>A
  hgvsp: ENSP00000171000.4:p.Glu38Lys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.238G>A
  hgvsp: ENSP00000395708.2:p.Glu80Lys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.112G>A
  hgvsp: ENSP00000448804.1:p.Glu38Lys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.238G>A
  hgvsp: ENSP00000373864.3:p.Glu80Lys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.220-1526G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.112G>A
  hgvsp: ENSP00000384521.2:p.Glu38Lys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.112G>A
  hgvsp: ENSP00000448619.1:p.Glu38Lys
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu80Lys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-48145735-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48145735
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48145735
    reference: chr 12
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.519C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.111C>T
  hgvsp: ENST00000171000.4:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.237C>T
  hgvsp: ENST00000395358.3:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.111C>T
  hgvsp: ENST00000495953.2:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.111C>T
  hgvsp: ENST00000548919.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.111C>T
  hgvsp: ENST00000466322.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.111C>T
  hgvsp: ENST00000405493.2:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.237C>T
  hgvsp: ENST00000389212.3:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.455C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.220-1527C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.237C>T
  hgvsp: ENST00000449771.2:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.111C>T
  hgvsp: ENST00000549151.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser79Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS

12-48145738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48145738
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48145738
    reference: chr 12
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.108C>T
  hgvsp: ENST00000405493.2:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.108C>T
  hgvsp: ENST00000171000.4:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.234C>T
  hgvsp: ENST00000389212.3:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.234C>T
  hgvsp: ENST00000449771.2:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.108C>T
  hgvsp: ENST00000549151.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.452C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.108C>T
  hgvsp: ENST00000495953.2:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.108C>T
  hgvsp: ENST00000466322.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.220-1530C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.108C>T
  hgvsp: ENST00000548919.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.516C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.234C>T
  hgvsp: ENST00000395358.3:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn78Asn
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

12-48145766-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48145766
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48145766
    reference: chr 12
allele count: 2
allele frequency: 1.664031949413429e-5
allele num: 120190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.94-14C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.94-14C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.220-14C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.220-14C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.220-1558C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.502-14C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.438-14C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.94-14C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.220-14C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.94-14C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.94-14C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.94-14C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

12-48145772-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48145772
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48145772
    reference: chr 12
allele count: 7
allele frequency: 5.842486562280907e-5
allele num: 119812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.220-20G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.438-20G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.94-20G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.502-20G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.94-20G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.94-20G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.220-20G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.220-20G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.94-20G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.94-20G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.220-1564G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.94-20G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8983
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-48145773-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48145773
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48145773
    reference: chr 12
allele count: 9
allele frequency: 7.524831945419886e-5
allele num: 119604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.220-21C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.94-21C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.220-21C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.220-21C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.220-1565C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.502-21C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.94-21C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.94-21C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.94-21C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.438-21C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.94-21C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.94-21C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8712
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25501
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

12-48145775-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48145775
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48145775
    reference: chr 12
allele count: 1
allele frequency: 8.36050497450046e-6
allele num: 119610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.94-23C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.220-23C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.220-1567C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.220-23C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.94-23C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.94-23C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.502-23C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.220-23C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.94-23C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.438-23C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.94-23C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.94-23C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

12-48145789-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48145789
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48145789
    reference: chr 12
allele count: 1
allele frequency: 8.415383320710258e-6
allele num: 118830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.94-37C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.438-37C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.220-37C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.220-37C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.220-37C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.94-37C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.94-37C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.502-37C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.220-1581C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.94-37C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.94-37C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.94-37C>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7428
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

12-48145796-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48145796
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48145796
    reference: chr 12
allele count: 3
allele frequency: 2.542976299460889e-5
allele num: 117972
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.220-44T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.94-44T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.94-44T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.94-44T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.94-44T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.220-44T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.502-44T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.220-1588T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.220-44T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.438-44T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.94-44T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.94-44T>C
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11997
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10297
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

12-48151611-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151611
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151611
    reference: chr 12
allele count: 1
allele frequency: 6.76773145641581e-5
allele num: 14776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.219+38A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.93+38A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.219+38A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.93+38A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.437+38A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.93+38A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.93+38A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.501+38A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.93+38A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+1916T>A
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.322+38A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.219+38A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.93+38A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.219+38A>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

12-48151623-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151623
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151623
    reference: chr 12
allele count: 10
allele frequency: 6.444129398118315e-4
allele num: 15518
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.93+26G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.93+26G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.437+26G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.219+26G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.322+26G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.219+26G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.93+26G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.93+26G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.219+26G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.219+26G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.501+26G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.93+26G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.93+26G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+1928C>G
  variant of: http://identifiers.org/hgnc/26035
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9172
  bin: 7.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36028
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

12-48151654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151654
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151654
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 18900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.496C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.88C>T
  hgvsp: ENSP00000448480.1:p.Arg30Cys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+1959G>A
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.317C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.214C>T
  hgvsp: ENSP00000449905.1:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.88C>T
  hgvsp: ENSP00000171000.4:p.Arg30Cys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.214C>T
  hgvsp: ENSP00000395708.2:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.88C>T
  hgvsp: ENSP00000446731.1:p.Arg30Cys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.88C>T
  hgvsp: ENSP00000384521.2:p.Arg30Cys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.88C>T
  hgvsp: ENSP00000448804.1:p.Arg30Cys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.214C>T
  hgvsp: ENSP00000378764.3:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.88C>T
  hgvsp: ENSP00000448619.1:p.Arg30Cys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.214C>T
  hgvsp: ENSP00000373864.3:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.432C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14890
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg72Cys
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

12-48151658-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151658
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151658
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 19236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.210G>A
  hgvsp: ENST00000547856.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.84G>A
  hgvsp: ENST00000548919.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.428G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.84G>A
  hgvsp: ENST00000405493.2:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.313G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.84G>A
  hgvsp: ENST00000549151.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.210G>A
  hgvsp: ENST00000395358.3:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.210G>A
  hgvsp: ENST00000389212.3:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.84G>A
  hgvsp: ENST00000466322.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.492G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.84G>A
  hgvsp: ENST00000171000.4:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.84G>A
  hgvsp: ENST00000495953.2:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+1963C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.210G>A
  hgvsp: ENST00000449771.2:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31698
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly70Gly
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

12-48151669-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151669
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151669
    reference: chr 12
allele count: 3
allele frequency: 1.514998485001515e-4
allele num: 19802
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.481T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.73T>C
  hgvsp: ENSP00000448480.1:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.199T>C
  hgvsp: ENSP00000378764.3:p.Cys67Arg
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.73T>C
  hgvsp: ENSP00000384521.2:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.73T>C
  hgvsp: ENSP00000448804.1:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.417T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.199T>C
  hgvsp: ENSP00000395708.2:p.Cys67Arg
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.199T>C
  hgvsp: ENSP00000373864.3:p.Cys67Arg
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.73T>C
  hgvsp: ENSP00000446731.1:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.302T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.73T>C
  hgvsp: ENSP00000171000.4:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.73T>C
  hgvsp: ENSP00000448619.1:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.199T>C
  hgvsp: ENSP00000449905.1:p.Cys67Arg
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+1974A>G
  variant of: http://identifiers.org/hgnc/26035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15972
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys67Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-48151673-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151673
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151673
    reference: chr 12
allele count: 1
allele frequency: 5.036768409388536e-5
allele num: 19854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.69G>A
  hgvsp: ENST00000466322.1:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.195G>A
  hgvsp: ENST00000395358.3:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.195G>A
  hgvsp: ENST00000449771.2:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+1978C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.195G>A
  hgvsp: ENST00000547856.1:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.413G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.195G>A
  hgvsp: ENST00000389212.3:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.69G>A
  hgvsp: ENST00000548919.1:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.477G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.69G>A
  hgvsp: ENST00000495953.2:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.69G>A
  hgvsp: ENST00000549151.1:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.298G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.69G>A
  hgvsp: ENST00000405493.2:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.69G>A
  hgvsp: ENST00000171000.4:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30982
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro65Pro
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

12-48151674-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151674
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151674
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 19896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.297C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.68C>T
  hgvsp: ENSP00000448804.1:p.Pro23Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.68C>T
  hgvsp: ENSP00000171000.4:p.Pro23Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.476C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.68C>T
  hgvsp: ENSP00000448619.1:p.Pro23Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.194C>T
  hgvsp: ENSP00000378764.3:p.Pro65Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.68C>T
  hgvsp: ENSP00000448480.1:p.Pro23Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.68C>T
  hgvsp: ENSP00000384521.2:p.Pro23Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+1979G>A
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.194C>T
  hgvsp: ENSP00000449905.1:p.Pro65Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.68C>T
  hgvsp: ENSP00000446731.1:p.Pro23Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.412C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.194C>T
  hgvsp: ENSP00000373864.3:p.Pro65Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.194C>T
  hgvsp: ENSP00000395708.2:p.Pro65Leu
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 16185
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30937
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro65Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

12-48151677-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151677
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151677
    reference: chr 12
allele count: 4
allele frequency: 2.00300450676014e-4
allele num: 19970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.65G>A
  hgvsp: ENSP00000446731.1:p.Arg22His
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.65G>A
  hgvsp: ENSP00000448480.1:p.Arg22His
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.191G>A
  hgvsp: ENSP00000395708.2:p.Arg64His
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.65G>A
  hgvsp: ENSP00000448804.1:p.Arg22His
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.191G>A
  hgvsp: ENSP00000378764.3:p.Arg64His
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.191G>A
  hgvsp: ENSP00000449905.1:p.Arg64His
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.294G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.191G>A
  hgvsp: ENSP00000373864.3:p.Arg64His
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.65G>A
  hgvsp: ENSP00000448619.1:p.Arg22His
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.65G>A
  hgvsp: ENSP00000384521.2:p.Arg22His
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.473G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.409G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.65G>A
  hgvsp: ENSP00000171000.4:p.Arg22His
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+1982C>T
  variant of: http://identifiers.org/hgnc/26035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16382
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg64His
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

12-48151679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151679
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151679
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 20104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.63G>A
  hgvsp: ENST00000171000.4:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.189G>A
  hgvsp: ENST00000547856.1:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.63G>A
  hgvsp: ENST00000405493.2:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.189G>A
  hgvsp: ENST00000449771.2:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+1984C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.63G>A
  hgvsp: ENST00000549151.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.471G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.407G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.189G>A
  hgvsp: ENST00000395358.3:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.63G>A
  hgvsp: ENST00000466322.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.63G>A
  hgvsp: ENST00000495953.2:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.292G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.63G>A
  hgvsp: ENST00000548919.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.189G>A
  hgvsp: ENST00000389212.3:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30606
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16703
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln63Gln
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

12-48151690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151690
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151690
    reference: chr 12
allele count: 1
allele frequency: 4.894283476898982e-5
allele num: 20432
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.178C>T
  hgvsp: ENST00000449771.2:c.178C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.52C>T
  hgvsp: ENST00000466322.1:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.178C>T
  hgvsp: ENST00000389212.3:c.178C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+1995G>A
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.281C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.52C>T
  hgvsp: ENST00000548919.1:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.460C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.178C>T
  hgvsp: ENST00000395358.3:c.178C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.52C>T
  hgvsp: ENST00000171000.4:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.52C>T
  hgvsp: ENST00000495953.2:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.178C>T
  hgvsp: ENST00000547856.1:c.178C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.52C>T
  hgvsp: ENST00000549151.1:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.52C>T
  hgvsp: ENST00000405493.2:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.396C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu60Leu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

12-48151691-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151691
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151691
    reference: chr 12
allele count: 1
allele frequency: 4.862394242925216e-5
allele num: 20566
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.51G>C
  hgvsp: ENST00000405493.2:c.51G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.51G>C
  hgvsp: ENST00000171000.4:c.51G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+1996C>G
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.51G>C
  hgvsp: ENST00000466322.1:c.51G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.177G>C
  hgvsp: ENST00000395358.3:c.177G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.51G>C
  hgvsp: ENST00000549151.1:c.51G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.177G>C
  hgvsp: ENST00000547856.1:c.177G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.459G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.395G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.51G>C
  hgvsp: ENST00000548919.1:c.51G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.280G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.51G>C
  hgvsp: ENST00000495953.2:c.51G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.177G>C
  hgvsp: ENST00000389212.3:c.177G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.177G>C
  hgvsp: ENST00000449771.2:c.177G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu59Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-48151692-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151692
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151692
    reference: chr 12
allele count: 1
allele frequency: 4.872819413312543e-5
allele num: 20522
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.279T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.50T>C
  hgvsp: ENSP00000446731.1:p.Leu17Pro
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.458T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+1997A>G
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.50T>C
  hgvsp: ENSP00000448804.1:p.Leu17Pro
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.176T>C
  hgvsp: ENSP00000449905.1:p.Leu59Pro
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.176T>C
  hgvsp: ENSP00000378764.3:p.Leu59Pro
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.50T>C
  hgvsp: ENSP00000384521.2:p.Leu17Pro
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.50T>C
  hgvsp: ENSP00000448619.1:p.Leu17Pro
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.50T>C
  hgvsp: ENSP00000171000.4:p.Leu17Pro
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.176T>C
  hgvsp: ENSP00000395708.2:p.Leu59Pro
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.176T>C
  hgvsp: ENSP00000373864.3:p.Leu59Pro
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.394T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.50T>C
  hgvsp: ENSP00000448480.1:p.Leu17Pro
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu59Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

12-48151704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151704
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151704
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 20740
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.38C>T
  hgvsp: ENSP00000446731.1:p.Ser13Phe
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.38C>T
  hgvsp: ENSP00000384521.2:p.Ser13Phe
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.38C>T
  hgvsp: ENSP00000171000.4:p.Ser13Phe
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.38C>T
  hgvsp: ENSP00000448619.1:p.Ser13Phe
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.164C>T
  hgvsp: ENSP00000449905.1:p.Ser55Phe
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.382C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.38C>T
  hgvsp: ENSP00000448480.1:p.Ser13Phe
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.38C>T
  hgvsp: ENSP00000448804.1:p.Ser13Phe
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.267C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.164C>T
  hgvsp: ENSP00000395708.2:p.Ser55Phe
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.164C>T
  hgvsp: ENSP00000378764.3:p.Ser55Phe
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.164C>T
  hgvsp: ENSP00000373864.3:p.Ser55Phe
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2009G>A
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.446C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16955
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser55Phe
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

12-48151714-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151714
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151714
    reference: chr 12
allele count: 1
allele frequency: 4.764173415912339e-5
allele num: 20990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.28C>T
  hgvsp: ENSP00000384521.2:p.Arg10Ter
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.28C>T
  hgvsp: ENSP00000446731.1:p.Arg10Ter
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.372C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.28C>T
  hgvsp: ENSP00000448619.1:p.Arg10Ter
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2019G>A
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.154C>T
  hgvsp: ENSP00000395708.2:p.Arg52Ter
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.154C>T
  hgvsp: ENSP00000378764.3:p.Arg52Ter
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.257C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.154C>T
  hgvsp: ENSP00000449905.1:p.Arg52Ter
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.436C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.28C>T
  hgvsp: ENSP00000448804.1:p.Arg10Ter
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.154C>T
  hgvsp: ENSP00000373864.3:p.Arg52Ter
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.28C>T
  hgvsp: ENSP00000448480.1:p.Arg10Ter
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.28C>T
  hgvsp: ENSP00000171000.4:p.Arg10Ter
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg52Ter
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-48151719-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151719
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151719
    reference: chr 12
allele count: 1
allele frequency: 4.702341766199567e-5
allele num: 21266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.149G>T
  hgvsp: ENSP00000378764.3:p.Arg50Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.23G>T
  hgvsp: ENSP00000384521.2:p.Arg8Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.23G>T
  hgvsp: ENSP00000446731.1:p.Arg8Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.23G>T
  hgvsp: ENSP00000448804.1:p.Arg8Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.23G>T
  hgvsp: ENSP00000448619.1:p.Arg8Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.252G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.23G>T
  hgvsp: ENSP00000448480.1:p.Arg8Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.149G>T
  hgvsp: ENSP00000449905.1:p.Arg50Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.149G>T
  hgvsp: ENSP00000395708.2:p.Arg50Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.431G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2024C>A
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.23G>T
  hgvsp: ENSP00000171000.4:p.Arg8Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.367G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.149G>T
  hgvsp: ENSP00000373864.3:p.Arg50Leu
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg50Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-48151720-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151720
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151720
    reference: chr 12
allele count: 1
allele frequency: 4.700131603684903e-5
allele num: 21276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.22C>T
  hgvsp: ENSP00000446731.1:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.22C>T
  hgvsp: ENSP00000171000.4:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.148C>T
  hgvsp: ENSP00000373864.3:p.Arg50Trp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.366C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.148C>T
  hgvsp: ENSP00000449905.1:p.Arg50Trp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.148C>T
  hgvsp: ENSP00000378764.3:p.Arg50Trp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.251C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.22C>T
  hgvsp: ENSP00000448619.1:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.22C>T
  hgvsp: ENSP00000384521.2:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.22C>T
  hgvsp: ENSP00000448804.1:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.148C>T
  hgvsp: ENSP00000395708.2:p.Arg50Trp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.22C>T
  hgvsp: ENSP00000448480.1:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2025G>A
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.430C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18678
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg50Trp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

12-48151724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151724
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151724
    reference: chr 12
allele count: 1
allele frequency: 4.641663572224285e-5
allele num: 21544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.426G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.18G>A
  hgvsp: ENSP00000171000.4:p.Met6Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.362G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.144G>A
  hgvsp: ENSP00000395708.2:p.Met48Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.144G>A
  hgvsp: ENSP00000378764.3:p.Met48Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.144G>A
  hgvsp: ENSP00000449905.1:p.Met48Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.18G>A
  hgvsp: ENSP00000448804.1:p.Met6Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.18G>A
  hgvsp: ENSP00000448480.1:p.Met6Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.18G>A
  hgvsp: ENSP00000384521.2:p.Met6Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.18G>A
  hgvsp: ENSP00000448619.1:p.Met6Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2029C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.144G>A
  hgvsp: ENSP00000373864.3:p.Met48Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.247G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.18G>A
  hgvsp: ENSP00000446731.1:p.Met6Ile
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met48Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP

12-48151738-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151738
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151738
    reference: chr 12
allele count: 1
allele frequency: 4.51426507764536e-5
allele num: 22152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.130G>A
  hgvsp: ENSP00000373864.3:p.Val44Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.4G>A
  hgvsp: ENSP00000446731.1:p.Val2Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2043C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.4G>A
  hgvsp: ENSP00000448480.1:p.Val2Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.348G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.4G>A
  hgvsp: ENSP00000448619.1:p.Val2Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.4G>A
  hgvsp: ENSP00000171000.4:p.Val2Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.130G>A
  hgvsp: ENSP00000449905.1:p.Val44Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.130G>A
  hgvsp: ENSP00000378764.3:p.Val44Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.4G>A
  hgvsp: ENSP00000448804.1:p.Val2Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.4G>A
  hgvsp: ENSP00000384521.2:p.Val2Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.412G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.233G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.130G>A
  hgvsp: ENSP00000395708.2:p.Val44Met
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25864
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21964
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val44Met
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: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

12-48151751-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151751
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151751
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 22846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-10A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.117A>G
  hgvsp: ENST00000449771.2:c.117A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.335A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.117A>G
  hgvsp: ENST00000389212.3:c.117A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-10A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-10A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.117A>G
  hgvsp: ENST00000547856.1:c.117A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2056T>C
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.220A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.117A>G
  hgvsp: ENST00000395358.3:c.117A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.399A>G
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr39Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

12-48151752-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151752
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151752
    reference: chr 12
allele count: 1
allele frequency: 4.375218760938047e-5
allele num: 22856
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.398C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.334C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.219C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.116C>T
  hgvsp: ENSP00000395708.2:p.Thr39Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.116C>T
  hgvsp: ENSP00000373864.3:p.Thr39Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.116C>T
  hgvsp: ENSP00000378764.3:p.Thr39Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.116C>T
  hgvsp: ENSP00000449905.1:p.Thr39Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2057G>A
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-11C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-11C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-11C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr39Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

12-48151760-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151760
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151760
    reference: chr 12
allele count: 19
allele frequency: 8.078231292517006e-4
allele num: 23520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.211G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.108G>A
  hgvsp: ENST00000547856.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-19G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.108G>A
  hgvsp: ENST00000395358.3:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.108G>A
  hgvsp: ENST00000389212.3:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.390G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-19G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-19G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.108G>A
  hgvsp: ENST00000449771.2:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2065C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.326G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26759
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro36Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

12-48151763-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151763
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151763
    reference: chr 12
allele count: 1
allele frequency: 4.158695832986775e-5
allele num: 24046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2068C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-22G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.387G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.105G>A
  hgvsp: ENST00000389212.3:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.105G>A
  hgvsp: ENST00000547856.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-22G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.105G>A
  hgvsp: ENST00000449771.2:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-22G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.208G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.105G>A
  hgvsp: ENST00000395358.3:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-22G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-22G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-22G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.323G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val35Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

12-48151768-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151768
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151768
    reference: chr 12
allele count: 5
allele frequency: 2.038154247513452e-4
allele num: 24532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.100G>A
  hgvsp: ENSP00000395708.2:p.Val34Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-27G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-27G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.100G>A
  hgvsp: ENSP00000378764.3:p.Val34Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2073C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.382G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-27G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.100G>A
  hgvsp: ENSP00000449905.1:p.Val34Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.100G>A
  hgvsp: ENSP00000373864.3:p.Val34Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.203G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.318G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18625
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28666
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val34Met
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

12-48151771-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151771
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151771
    reference: chr 12
allele count: 1
allele frequency: 4.018000642880103e-5
allele num: 24888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.97G>A
  hgvsp: ENSP00000378764.3:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-30G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-30G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.315G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-30G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.200G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.97G>A
  hgvsp: ENSP00000373864.3:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2076C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.97G>A
  hgvsp: ENSP00000449905.1:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.97G>A
  hgvsp: ENSP00000395708.2:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.379G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp33Asn
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-48151778-GGCTCCCACCCGCGGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151778
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151763
    reference: chr 12
allele count: 1
allele frequency: 3.902591320636903e-5
allele num: 25624
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsp: ENSP00000378764.3:p.Pro26_Ala30del
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsp: ENSP00000395708.2:p.Pro26_Ala30del
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsp: ENSP00000373864.3:p.Pro26_Ala30del
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsp: ENSP00000449905.1:p.Pro26_Ala30del
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro26_Ala30del
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: GGCTCCCACCCGCGGT
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-48151779-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151779
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151779
    reference: chr 12
allele count: 1
allele frequency: 3.914813654870028e-5
allele num: 25544
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.89C>A
  hgvsp: ENSP00000395708.2:p.Ala30Asp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-38C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-38C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-38C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.89C>A
  hgvsp: ENSP00000378764.3:p.Ala30Asp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.89C>A
  hgvsp: ENSP00000373864.3:p.Ala30Asp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.89C>A
  hgvsp: ENSP00000449905.1:p.Ala30Asp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-38C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-38C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.371C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-38C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2084G>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.307C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.192C>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala30Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-48151787-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151787
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151787
    reference: chr 12
allele count: 1
allele frequency: 3.771876885938443e-5
allele num: 26512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.81G>T
  hgvsp: ENST00000547856.1:c.81G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.81G>T
  hgvsp: ENST00000395358.3:c.81G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.81G>T
  hgvsp: ENST00000389212.3:c.81G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-46G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-46G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.363G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-46G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-46G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.184G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.81G>T
  hgvsp: ENST00000449771.2:c.81G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-46G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-46G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.299G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2092C>A
  variant of: http://identifiers.org/hgnc/26035
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30319
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg27Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

12-48151788-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151788
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151788
    reference: chr 12
allele count: 6
allele frequency: 2.256317689530686e-4
allele num: 26592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-47G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.80G>A
  hgvsp: ENSP00000449905.1:p.Arg27Gln
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.80G>A
  hgvsp: ENSP00000373864.3:p.Arg27Gln
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-47G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.298G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-47G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-47G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.80G>A
  hgvsp: ENSP00000395708.2:p.Arg27Gln
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.80G>A
  hgvsp: ENSP00000378764.3:p.Arg27Gln
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-47G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-47G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.362G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2093C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.183G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30395
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15805
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg27Gln
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

12-48151789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151789
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151789
    reference: chr 12
allele count: 68
allele frequency: 2.533532041728763e-3
allele num: 26840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.297C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-48C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-48C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.182C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-48C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.79C>T
  hgvsp: ENSP00000378764.3:p.Arg27Trp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-48C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.79C>T
  hgvsp: ENSP00000449905.1:p.Arg27Trp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.79C>T
  hgvsp: ENSP00000395708.2:p.Arg27Trp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2094G>A
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.361C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-48C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.79C>T
  hgvsp: ENSP00000373864.3:p.Arg27Trp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-48C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15650
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30484
  bin: 7.5e0
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 1.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg27Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-48151789-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151789
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151789
    reference: chr 12
allele count: 1
allele frequency: 3.725782414307004e-5
allele num: 26840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-48C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-48C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-48C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.297C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-48C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-48C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.79C>G
  hgvsp: ENSP00000373864.3:p.Arg27Gly
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.182C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.79C>G
  hgvsp: ENSP00000395708.2:p.Arg27Gly
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.79C>G
  hgvsp: ENSP00000378764.3:p.Arg27Gly
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-48C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2094G>C
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.79C>G
  hgvsp: ENSP00000449905.1:p.Arg27Gly
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.361C>G
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15650
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg27Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-48151792-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151792
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151792
    reference: chr 12
allele count: 1
allele frequency: 3.693307726399764e-5
allele num: 27076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.76C>T
  hgvsp: ENSP00000373864.3:p.Pro26Ser
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.76C>T
  hgvsp: ENSP00000449905.1:p.Pro26Ser
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-51C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.76C>T
  hgvsp: ENSP00000378764.3:p.Pro26Ser
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-51C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.76C>T
  hgvsp: ENSP00000395708.2:p.Pro26Ser
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-51C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.294C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2097G>A
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.358C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-51C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-51C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-51C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.179C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro26Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-48151799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151799
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151799
    reference: chr 12
allele count: 1
allele frequency: 3.609326499675161e-5
allele num: 27706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-58G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.69G>A
  hgvsp: ENST00000389212.3:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.69G>A
  hgvsp: ENST00000547856.1:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.69G>A
  hgvsp: ENST00000395358.3:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.69G>A
  hgvsp: ENST00000449771.2:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2104C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.287G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-58G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.351G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-58G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-58G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-58G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.172G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-58G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu23Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

12-48151800-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151800
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151800
    reference: chr 12
allele count: 1
allele frequency: 3.581405343456772e-5
allele num: 27922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-59T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-59T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.68T>C
  hgvsp: ENSP00000373864.3:p.Leu23Pro
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.68T>C
  hgvsp: ENSP00000395708.2:p.Leu23Pro
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.171T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.68T>C
  hgvsp: ENSP00000378764.3:p.Leu23Pro
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.286T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.350T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.68T>C
  hgvsp: ENSP00000449905.1:p.Leu23Pro
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-59T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-59T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-59T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-59T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2105A>G
  variant of: http://identifiers.org/hgnc/26035
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu23Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

12-48151803-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151803
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151803
    reference: chr 12
allele count: 2
allele frequency: 7.125552230297848e-5
allele num: 28068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-62C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.65C>T
  hgvsp: ENSP00000378764.3:p.Ala22Val
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-62C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2108G>A
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-62C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.65C>T
  hgvsp: ENSP00000395708.2:p.Ala22Val
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.347C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.65C>T
  hgvsp: ENSP00000449905.1:p.Ala22Val
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-62C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.65C>T
  hgvsp: ENSP00000373864.3:p.Ala22Val
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-62C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-62C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.168C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.283C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30762
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala22Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-48151819-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151819
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151819
    reference: chr 12
allele count: 1
allele frequency: 3.477293274914807e-5
allele num: 28758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.331G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.152G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.49G>A
  hgvsp: ENSP00000395708.2:p.Val17Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-78G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.49G>A
  hgvsp: ENSP00000373864.3:p.Val17Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.267G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2124C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.49G>A
  hgvsp: ENSP00000378764.3:p.Val17Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-78G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-78G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.49G>A
  hgvsp: ENSP00000449905.1:p.Val17Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-78G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-78G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-78G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val17Met
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-48151822-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151822
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151822
    reference: chr 12
allele count: 15804
allele frequency: 4.054386865059005e-1
allele num: 38980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.328G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-81G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-81G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.46G>C
  hgvsp: ENSP00000395708.2:p.Ala16Pro
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.46G>C
  hgvsp: ENSP00000449905.1:p.Ala16Pro
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-81G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-81G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.46G>C
  hgvsp: ENSP00000378764.3:p.Ala16Pro
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.46G>C
  hgvsp: ENSP00000373864.3:p.Ala16Pro
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-81G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2127C>G
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-81G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.149G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.264G>C
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 281
genotype depth: GenotypeDepth
  all individuals: 26659
  bin: 7.5e0
  variant carriers: 8411
genotype depth: GenotypeDepth
  all individuals: 10741
  bin: 2.5e0
  variant carriers: 1336
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.25e1
  variant carriers: 269
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 336
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 287
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 431
genotype depth: GenotypeDepth
  all individuals: 9141
  bin: 1.25e1
  variant carriers: 6249
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 1.75e1
  variant carriers: 2040
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 402
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 2.75e1
  variant carriers: 317
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 412
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 2.25e1
  variant carriers: 634
genotype quality: GenotypeQuality
hgvs: p.Ala16Pro
num of homozygotes: 2414
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

12-48151826-GCCCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151826
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151822
    reference: chr 12
allele count: 91
allele frequency: 3.04408911487255e-3
allele num: 29894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-89_-86delTGGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.320_323delTGGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.38_41delTGGG
  hgvsp: ENSP00000395708.2:p.Val13AlafsTer32
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2134_-187+2137delCACC
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.38_41delTGGG
  hgvsp: ENSP00000373864.3:p.Val13AlafsTer32
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.256_259delTGGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.38_41delTGGG
  hgvsp: ENSP00000449905.1:p.Val13AlafsTer32
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-89_-86delTGGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-89_-86delTGGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.141_144delTGGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.38_41delTGGG
  hgvsp: ENSP00000378764.3:p.Val13AlafsTer32
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-89_-86delTGGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-89_-86delTGGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-89_-86delTGGG
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16955
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 1.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26882
  bin: 7.5e0
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Val13AlafsTer32
num of homozygotes: 1
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: GCCCA
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-48151827-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151827
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151827
    reference: chr 12
allele count: 3
allele frequency: 1.020616452337212e-4
allele num: 29394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.41G>T
  hgvsp: ENSP00000449905.1:p.Gly14Val
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.259G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2132C>A
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-86G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-86G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.323G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-86G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.41G>T
  hgvsp: ENSP00000395708.2:p.Gly14Val
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-86G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-86G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.41G>T
  hgvsp: ENSP00000378764.3:p.Gly14Val
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.144G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-86G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.41G>T
  hgvsp: ENSP00000373864.3:p.Gly14Val
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly14Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/12-48151830-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151830
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151830
    reference: chr 12
allele count: 5
allele frequency: 1.824151769427216e-4
allele num: 27410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-89T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-89T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.320T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.38T>G
  hgvsp: ENSP00000449905.1:p.Val13Gly
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-89T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.38T>G
  hgvsp: ENSP00000395708.2:p.Val13Gly
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-89T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.38T>G
  hgvsp: ENSP00000373864.3:p.Val13Gly
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.256T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-89T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.38T>G
  hgvsp: ENSP00000378764.3:p.Val13Gly
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-89T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2135A>C
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.141T>G
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17973
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26167
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Val13Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-48151831-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151831
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151831
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 28894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.140G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-90G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-90G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.255G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2136C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.37G>A
  hgvsp: ENSP00000378764.3:p.Val13Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.37G>A
  hgvsp: ENSP00000395708.2:p.Val13Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.319G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-90G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.37G>A
  hgvsp: ENSP00000449905.1:p.Val13Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.37G>A
  hgvsp: ENSP00000373864.3:p.Val13Met
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-90G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-90G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-90G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26391
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val13Met
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

12-48151852-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151852
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151852
    reference: chr 12
allele count: 1
allele frequency: 3.991060025542784e-5
allele num: 25056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-111C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-111C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.234C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.16C>G
  hgvsp: ENSP00000378764.3:p.Pro6Ala
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-111C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.16C>G
  hgvsp: ENSP00000449905.1:p.Pro6Ala
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-111C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.16C>G
  hgvsp: ENSP00000395708.2:p.Pro6Ala
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-111C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.298C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-111C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2157G>C
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.119C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.16C>G
  hgvsp: ENSP00000373864.3:p.Pro6Ala
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23619
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro6Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-48151853-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151853
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151853
    reference: chr 12
allele count: 1
allele frequency: 4.002882075094068e-5
allele num: 24982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.15G>T
  hgvsp: ENSP00000449905.1:p.Trp5Cys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-112G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.118G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-112G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-112G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.15G>T
  hgvsp: ENSP00000395708.2:p.Trp5Cys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-112G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.15G>T
  hgvsp: ENSP00000373864.3:p.Trp5Cys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.15G>T
  hgvsp: ENSP00000378764.3:p.Trp5Cys
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-112G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.233G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.297G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2158C>A
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-112G>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23899
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp5Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-48151870-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151870
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151870
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 21640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.7-9G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.7-9G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.225-9G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.289-9G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-120-9G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-129G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-120-9G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.101G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-120-9G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-120-9G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-120-9G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.7-9G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2175C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.7-9G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17226
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff

12-48151874-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151874
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151874
    reference: chr 12
allele count: 2
allele frequency: 9.698380370478131e-5
allele num: 20622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-120-13C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.225-13C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.97C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.7-13C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.7-13C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-120-13C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-120-13C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2179G>A
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.289-13C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.7-13C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-120-13C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-133C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-120-13C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.7-13C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31086
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15562
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

12-48151886-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151886
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151886
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 18962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.289-25G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-120-25G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-120-25G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-120-25G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-120-25G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.7-25G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.225-25G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-120-25G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.7-25G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-145G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.85G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.7-25G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2191C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.7-25G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12883
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33609
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/12-48151887-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151887
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151887
    reference: chr 12
allele count: 1
allele frequency: 5.285412262156448e-5
allele num: 18920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-120-26T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.225-26T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-120-26T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-120-26T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.7-26T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.289-26T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.7-26T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-120-26T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.7-26T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.84T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-120-26T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-146T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2192A>C
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.7-26T>G
  variant of: http://identifiers.org/hgnc/16629
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

12-48151893-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151893
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151893
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 17918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.7-32C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.7-32C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.7-32C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.225-32C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.7-32C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-152C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-120-32C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-120-32C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.78C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-120-32C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2198G>A
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-120-32C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.289-32C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-120-32C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34459
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

12-48151899-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48151899
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48151899
    reference: chr 12
allele count: 1
allele frequency: 6.024096385542168e-5
allele num: 16600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000446731
  ensembl transcript: ENST00000466322
  gene symbol: RAPGEF3
  hgvsc: ENST00000466322.1:c.-120-38G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.7-38G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2204C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000549347
  gene symbol: RAPGEF3
  hgvsc: ENST00000549347.1:n.72G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.-120-38G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-120-38G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.7-38G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.7-38G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.7-38G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-120-38G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.289-38G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-120-38G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448804
  ensembl transcript: ENST00000495953
  gene symbol: RAPGEF3
  hgvsc: ENST00000495953.2:c.-158G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.225-38G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34361
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11319
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

12-48152286-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48152286
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48152286
    reference: chr 12
allele count: 1
allele frequency: 8.370722560771445e-6
allele num: 119464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.6+48G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.224+48G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2591C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.288+48G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-120-425G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.6+48G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-120-425G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-121+48G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.6+48G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.6+48G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16774
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

12-48152287-T-TCCCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48152287
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48152291
    reference: chr 12
allele count: 7
allele frequency: 5.857838624914224e-5
allele num: 119498
alternate allele: TCCCG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-120-430_-120-427dupCGGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.224+43_224+46dupCGGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.6+43_6+46dupCGGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.6+43_6+46dupCGGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2596_-187+2599dupGCCC
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-120-430_-120-427dupCGGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.6+43_6+46dupCGGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-121+43_-121+46dupCGGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.6+43_6+46dupCGGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.288+43_288+46dupCGGG
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16772
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/12-48152290-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48152290
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48152290
    reference: chr 12
allele count: 1
allele frequency: 8.361763328650746e-6
allele num: 119592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.6+44G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.6+44G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-121+44G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.288+44G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2595C>A
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.6+44G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-120-429G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-120-429G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.6+44G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.224+44G>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16769
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-48152291-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48152291
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48152291
    reference: chr 12
allele count: 13
allele frequency: 1.08686564668506e-4
allele num: 119610
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.6+43C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-120-430C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.6+43C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.6+43C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-120-430C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2596G>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.6+43C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-121+43C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.224+43C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.288+43C>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16768
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

12-48152294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48152294
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48152294
    reference: chr 12
allele count: 2
allele frequency: 1.667722891164404e-5
allele num: 119924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-120-433G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-120-433G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.288+40G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.6+40G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.6+40G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-121+40G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.6+40G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2599C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.224+40G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.6+40G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16763
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

12-48152302-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48152302
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48152302
    reference: chr 12
allele count: 1
allele frequency: 8.326949338840222e-6
allele num: 120092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.6+32G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2607C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.224+32G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.6+32G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.288+32G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.6+32G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-120-441G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.6+32G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-120-441G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-121+32G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16762
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

12-48152303-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48152303
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48152303
    reference: chr 12
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.6+31A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.6+31A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2608T>C
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-121+31A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-120-442A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.224+31A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.6+31A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-120-442A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.288+31A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.6+31A>G
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16762
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50985
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-48152305-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48152305
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48152305
    reference: chr 12
allele count: 2
allele frequency: 1.664115023630433e-5
allele num: 120184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.288+29G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.6+29G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.6+29G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-120-444G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.6+29G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.6+29G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2610C>G
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-121+29G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-120-444G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.224+29G>C
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

12-48152315-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48152315
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48152315
    reference: chr 12
allele count: 1
allele frequency: 8.30937463646486e-6
allele num: 120346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000378764
  ensembl transcript: ENST00000395358
  gene symbol: RAPGEF3
  hgvsc: ENST00000395358.3:c.6+19G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.6+19G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.-120-454G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000211584
  ensembl protein: ENSP00000450234
  ensembl transcript: ENST00000548498
  gene symbol: SLC48A1
  hgvsc: ENST00000548498.1:c.-187+2620C>T
  variant of: http://identifiers.org/hgnc/26035
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.-120-454G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.6+19G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.-121+19G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.6+19G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.288+19G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.224+19G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 40
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 51
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40694
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3114
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1669
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2421
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7990
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

FS
type: SiteQuality
SIO_000300: 5.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

DP
type: SiteQuality
SIO_000300: 1.772015e6

QD
type: SiteQuality
SIO_000300: 1.127e1

GenotypeDepth
all individuals: 3585
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 983
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3098
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2625
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40714
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2421
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1670
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7992
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

QD
type: SiteQuality
SIO_000300: 7.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.86e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: -2.295e0

DP
type: SiteQuality
SIO_000300: 1.771107e6

FS
type: SiteQuality
SIO_000300: 3.284e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
all individuals: 46
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3097
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 40701
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GenotypeQuality
all individuals: 1665
bin: 8.25e1
variant carriers: 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: 11556
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.08e-1

MQRankSum
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QD
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SIO_000300: 1.148e1

BaseQRankSum
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SIO_000300: -3.135e0

DP
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SIO_000300: 1.770329e6

ClippingRankSum
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SIO_000300: -1.613e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 2.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.934984520123839e-4
allele num: 10336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66146
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

FS
type: SiteQuality
SIO_000300: 3.689e0

DP
type: SiteQuality
SIO_000300: 1.724722e6

ClippingRankSum
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InbreedingCoeff
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SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.217e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2798
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.941747572815534e-4
allele num: 10300
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.583110895413735e-5
allele num: 65936
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

BaseQRankSum
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SIO_000300: 2.52e0

MQRankSum
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SIO_000300: 2.26e-1

InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.284e1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

DP
type: SiteQuality
SIO_000300: 1.692165e6

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2012
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65828
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.723842862699339e-5
allele num: 10284
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.742787200559538e-5
allele num: 11438
num of homozygotes: 0

East Asian
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allele count: 7
allele frequency: 8.17184216670558e-4
allele num: 8566
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
allele num: 878
num of homozygotes: 0

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

BaseQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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MQRankSum
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VQSLOD
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65844
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
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African
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allele count: 1
allele frequency: 9.72762645914397e-5
allele num: 10280
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 2.23e0

DP
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ReadPosRankSum
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VQSLOD
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FS
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MQ
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -3.6e-2

QD
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1682
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65426
num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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allele count: 1
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Other
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FS
type: SiteQuality
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MQ
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ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1450
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GenotypeQuality
all individuals: 3058
bin: 9.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.61510060919328e-5
allele num: 65004
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

MQ
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
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QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 4.681647940074906e-4
allele num: 2136
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5746
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

ClippingRankSum
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SIO_000300: -1.197e0

BaseQRankSum
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MQ
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -7.41e-2

DP
type: SiteQuality
SIO_000300: 2.82876e5

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16

GenotypeQuality
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variant carriers: 1

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.632919660352711e-4
allele num: 6124
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 1.324503311258278e-3
allele num: 6040
num of homozygotes: 0

African
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allele count: 1
allele frequency: 4.528985507246377e-4
allele num: 2208
num of homozygotes: 0

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

QD
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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BaseQRankSum
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SIO_000300: -4.53e-1

VQSLOD
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DP
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SIO_000300: 3.13438e5

GenotypeDepth
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variant carriers: 0

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7400
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
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SIO_000300: 5.73e-1

ClippingRankSum
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SIO_000300: 2.48e-1

VQSLOD
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FS
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SIO_000300: 0.0e0

MQRankSum
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InbreedingCoeff
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SIO_000300: -6.0e-2

MQ
type: SiteQuality
SIO_000300: 5.572e1

DP
type: SiteQuality
SIO_000300: 4.04418e5

QD
type: SiteQuality
SIO_000300: 1.135e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2530
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7544
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.02e-1

DP
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
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FS
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SIO_000300: 2.893e0

MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 3.82262996941896e-4
allele num: 7848
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

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

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

InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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MQRankSum
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QD
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ReadPosRankSum
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FS
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DP
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 1

African
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allele frequency: 0.0e0
allele num: 2608
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.525890376357666e-4
allele num: 7918
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 4.424778761061947e-3
allele num: 452
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 2.78e-1

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.30698e5

VQSLOD
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BaseQRankSum
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SIO_000300: -7.36e-1

FS
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ReadPosRankSum
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SIO_000300: 7.36e-1

InbreedingCoeff
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SIO_000300: -5.62e-2

QD
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MQRankSum
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SIO_000300: 1.92e0

ClippingRankSum
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SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.21036068748487e-4
allele num: 8262
num of homozygotes: 0

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

South Asian
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allele count: 0
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QD
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VQSLOD
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DP
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SIO_000300: 4.36159e5

ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -5.68e-2

FS
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SIO_000300: 2.817e0

MQRankSum
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SIO_000300: 7.27e-1

ClippingRankSum
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SIO_000300: 1.46e0

MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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Other
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African
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allele num: 2656
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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ReadPosRankSum
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FS
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 1.2531328320802e-4
allele num: 7980
num of homozygotes: 0

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

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

Latino
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allele count: 1
allele frequency: 1.597444089456869e-3
allele num: 626
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

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

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

VQSLOD
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SIO_000300: -9.593e-1

BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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QD
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MQ
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SIO_000300: 5.944e1

MQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 22

African
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allele count: 18
allele frequency: 5.97609561752988e-3
allele num: 3012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.408450704225352e-3
allele num: 710
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

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

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

MQ
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SIO_000300: 6.0e1

FS
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DP
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InbreedingCoeff
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QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 4.06e-1

VQSLOD
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BaseQRankSum
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SIO_000300: 7.36e-1

ClippingRankSum
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SIO_000300: 1.93e-1

MQRankSum
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SIO_000300: 3.61e-1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1238
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3022
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.227596366314756e-4
allele num: 8146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10484
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.14e-1

VQSLOD
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BaseQRankSum
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DP
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ClippingRankSum
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SIO_000300: 1.08e0

MQRankSum
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SIO_000300: -2.46e-1

FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.72e-2

QD
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MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeDepth
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variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 3.263707571801567e-4
allele num: 3064
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1308
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 1.222792858889704e-4
allele num: 8178
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 2.784481158344162e-4
allele num: 10774
num of homozygotes: 0

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

QD
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GenotypeDepth
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variant carriers: 0

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

Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 9.092562284051645e-5
allele num: 10998
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South Asian
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African
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 8.765778401122019e-5
allele num: 11408
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.209242618741977e-4
allele num: 3116
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.125e1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -3.26e-2

DP
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SIO_000300: 5.42386e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.375209380234506e-5
allele num: 11940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3164
num of homozygotes: 0

Latino
type: Population
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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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DP
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ClippingRankSum
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SIO_000300: 2.15e-1

QD
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MQRankSum
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BaseQRankSum
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SIO_000300: -9.56e-1

VQSLOD
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SIO_000300: -1.571e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1574
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 1.579279848389135e-3
allele num: 3166
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.336112037345781e-5
allele num: 11996
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.11e-2

FS
type: SiteQuality
SIO_000300: 7.869e0

VQSLOD
type: SiteQuality
SIO_000300: -8.917e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

DP
type: SiteQuality
SIO_000300: 5.5022e5

QD
type: SiteQuality
SIO_000300: 2.42e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 143
bin: 9.25e1
variant carriers: 14

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 2.30566534914361e-3
allele num: 12144
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.310344827586207e-3
allele num: 232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 24
allele frequency: 8.51063829787234e-2
allele num: 282
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.200480192076831e-4
allele num: 8330
num of homozygotes: 0

African
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allele count: 1
allele frequency: 3.160556257901391e-4
allele num: 3164
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 7.985257985257985e-3
allele num: 1628
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
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SIO_000300: 1.241e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-2

FS
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VQSLOD
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MQ
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SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.51967e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1628
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12144
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.433962264150943e-4
allele num: 1060
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.156606851549755e-5
allele num: 12260
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
type: Population
allele count: 0
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Latino
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DP
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MQ
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12632
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3244
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1212
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.189909566872918e-4
allele num: 8404
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.777e1

InbreedingCoeff
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SIO_000300: -3.01e-2

VQSLOD
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QD
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SIO_000300: 1.119e1

ClippingRankSum
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SIO_000300: -1.684e0

ReadPosRankSum
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DP
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SIO_000300: 5.56526e5

MQRankSum
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SIO_000300: -6.25e-1

BaseQRankSum
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SIO_000300: -4.8e-2

GenotypeDepth
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1224
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.747126436781609e-4
allele num: 1740
num of homozygotes: 0

ClippingRankSum
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SIO_000300: -3.37e-1

InbreedingCoeff
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SIO_000300: -2.95e-2

QD
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ReadPosRankSum
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MQRankSum
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SIO_000300: -7.18e-1

VQSLOD
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SIO_000300: 2.69e-1

BaseQRankSum
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SIO_000300: -1.63e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 4.103e0

DP
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SIO_000300: 5.57588e5

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.554243083618278e-4
allele num: 12868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1250
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
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SIO_000300: 3.7e-1

FS
type: SiteQuality
SIO_000300: 4.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.96e-2

QD
type: SiteQuality
SIO_000300: 1.46e1

DP
type: SiteQuality
SIO_000300: 5.58193e5

GenotypeDepth
all individuals: 2351
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1159
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GenotypeQuality
all individuals: 5417
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3256
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.177301624676242e-4
allele num: 8494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13338
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.072e1

DP
type: SiteQuality
SIO_000300: 5.62805e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.69e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

GenotypeDepth
all individuals: 348
bin: 3.75e1
variant carriers: 272

GenotypeDepth
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variant carriers: 167

GenotypeDepth
all individuals: 144
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GenotypeDepth
all individuals: 236
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variant carriers: 236

GenotypeDepth
all individuals: 394
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variant carriers: 388

GenotypeDepth
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GenotypeDepth
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variant carriers: 358

GenotypeQuality
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variant carriers: 316

GenotypeQuality
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GenotypeQuality
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variant carriers: 749

GenotypeQuality
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variant carriers: 635

GenotypeQuality
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variant carriers: 537

GenotypeQuality
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variant carriers: 779

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1257

Latino
type: Population
allele count: 758
allele frequency: 3.623326959847036e-1
allele num: 2092
num of homozygotes: 67

Other
type: Population
allele count: 125
allele frequency: 4.139072847682119e-1
allele num: 302
num of homozygotes: 16

European (Finnish)
type: Population
allele count: 367
allele frequency: 5.272988505747126e-1
allele num: 696
num of homozygotes: 60

South Asian
type: Population
allele count: 3798
allele frequency: 4.067252088241594e-1
allele num: 9338
num of homozygotes: 744

East Asian
type: Population
allele count: 790
allele frequency: 3.172690763052209e-1
allele num: 2490
num of homozygotes: 79

European (Non-Finnish)
type: Population
allele count: 8600
allele frequency: 4.273504273504273e-1
allele num: 20124
num of homozygotes: 1247

African
type: Population
allele count: 1366
allele frequency: 3.468765871000508e-1
allele num: 3938
num of homozygotes: 201

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 1.789e1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.92e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

FS
type: SiteQuality
SIO_000300: 1.848e0

DP
type: SiteQuality
SIO_000300: 7.65616e5

GenotypeDepth
all individuals: 8
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variant carriers: 2

GenotypeDepth
all individuals: 20
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variant carriers: 2

GenotypeDepth
all individuals: 5
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 3
allele frequency: 9.493670886075949e-4
allele num: 3160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1890
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 79
allele frequency: 5.526794459213656e-3
allele num: 14294
num of homozygotes: 1

Other
type: Population
allele count: 0
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allele num: 238
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South Asian
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allele count: 9
allele frequency: 1.051893408134642e-3
allele num: 8556
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QD
type: SiteQuality
SIO_000300: 1.229e1

MQ
type: SiteQuality
SIO_000300: 5.705e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

FS
type: SiteQuality
SIO_000300: 1.188e0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
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SIO_000300: 5.53887e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.24e-2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 243
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variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.431024613623354e-4
allele num: 13976
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.46448087431694e-4
allele num: 1830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3128
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.45e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.645e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

QD
type: SiteQuality
SIO_000300: 6.09e0

FS
type: SiteQuality
SIO_000300: 5.201e0

VQSLOD
type: SiteQuality
SIO_000300: -1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 5.52412e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 2

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.871536523929471e-5
allele num: 12704
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1710
num of homozygotes: 0

African
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allele count: 4
allele frequency: 1.433691756272401e-3
allele num: 2790
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.016e1

BaseQRankSum
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SIO_000300: -3.413e0

MQ
type: SiteQuality
SIO_000300: 5.808e1

DP
type: SiteQuality
SIO_000300: 5.42627e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.11e-2

VQSLOD
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SIO_000300: -1.869e1

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

ClippingRankSum
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SIO_000300: 2.27e0

QD
type: SiteQuality
SIO_000300: 4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.511e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 70
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1364
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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 13668
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3034
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1794
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.583e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.44e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.45742e5

QD
type: SiteQuality
SIO_000300: 6.63e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1446
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.633911368015414e-4
allele num: 1038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2642
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

QD
type: SiteQuality
SIO_000300: 8.99e0

DP
type: SiteQuality
SIO_000300: 4.91564e5

VQSLOD
type: SiteQuality
SIO_000300: -1.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.27e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.52e-2

FS
type: SiteQuality
SIO_000300: 6.402e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.237317495669389e-4
allele num: 8082
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1452
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.43e-1

DP
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MQRankSum
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ReadPosRankSum
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SIO_000300: -1.28e-1

FS
type: SiteQuality
SIO_000300: 1.1217e1

BaseQRankSum
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SIO_000300: -2.257e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.52e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.269e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

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

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

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

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

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

Other
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: 1.51e0

VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
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MQ
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QD
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.62e-2

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 8900
num of homozygotes: 0

African
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num of homozygotes: 0

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

Latino
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South Asian
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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VQSLOD
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DP
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SIO_000300: 4.07433e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.44e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

DP
type: SiteQuality
SIO_000300: 3.67118e5

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.192e1

GenotypeDepth
all individuals: 152
bin: 3.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165501165501166e-3
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1978
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

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

BaseQRankSum
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SIO_000300: -1.179e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.62e-1

InbreedingCoeff
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SIO_000300: 4.97e-2

DP
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SIO_000300: 3.63578e5

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.36e-1

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1840
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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7422
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.78e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 3.40443e5

QD
type: SiteQuality
SIO_000300: 3.323e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.342e0

GenotypeDepth
all individuals: 3
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.486767766874814e-4
allele num: 6726
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6846
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.559e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.041e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 3.16938e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 4.763e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.12e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 381
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15618
num of homozygotes: 0

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

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

Latino
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
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allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
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DP
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 7.14e-1

MQRankSum
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SIO_000300: -5.51e-1

ClippingRankSum
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SIO_000300: 2.77e-1

GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
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

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

European (Non-Finnish)
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allele count: 7
allele frequency: 1.054661604290966e-4
allele num: 66372
num of homozygotes: 0

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

VQSLOD
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SIO_000300: 1.83e0

ClippingRankSum
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FS
type: SiteQuality
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MQRankSum
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DP
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MQ
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66394
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

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

East Asian
type: Population
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allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

Latino
type: Population
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num of homozygotes: 0

Other
type: Population
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FS
type: SiteQuality
SIO_000300: 8.86e-1

MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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DP
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 7
allele frequency: 1.054248621946444e-4
allele num: 66398
num of homozygotes: 0

African
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Latino
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: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.816308357715303e-4
allele num: 15722
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

DP
type: SiteQuality
SIO_000300: 4.663455e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

FS
type: SiteQuality
SIO_000300: 3.561e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.256e1

MQ
type: SiteQuality
SIO_000300: 5.933e1

GenotypeQuality
all individuals: 616
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50984
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3595
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

DP
type: SiteQuality
SIO_000300: 4.668691e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.32e-1

FS
type: SiteQuality
SIO_000300: 1.2184e1

QD
type: SiteQuality
SIO_000300: 1.341e1

VQSLOD
type: SiteQuality
SIO_000300: -1.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 694
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50985
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4462
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.0961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.428e0

QD
type: SiteQuality
SIO_000300: 1.299e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.13e0

DP
type: SiteQuality
SIO_000300: 4.676938e6

VQSLOD
type: SiteQuality
SIO_000300: -1.796e0

GenotypeQuality
all individuals: 450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4561
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16116
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: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.103e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 1.597e0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

DP
type: SiteQuality
SIO_000300: 4.677601e6

VQSLOD
type: SiteQuality
SIO_000300: 8.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.82e-1

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

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50986
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4664
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.198859409868585e-5
allele num: 16132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.366e0

FS
type: SiteQuality
SIO_000300: 7.791e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

DP
type: SiteQuality
SIO_000300: 4.678947e6

QD
type: SiteQuality
SIO_000300: 8.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.808e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.75e1
variant carriers: 0