12-48131991-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48131991
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48131991
    reference: chr 12
allele count: 8
allele frequency: 6.735594247802513e-5
allele num: 118772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.2440C>A
  hgvsp: ENST00000405493.2:c.2440C>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.2440C>A
  hgvsp: ENST00000171000.4:c.2440C>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.3400C>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.2566C>A
  hgvsp: ENST00000389212.3:c.2566C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-707G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2239C>A
  hgvsp: ENST00000548919.1:c.2239C>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.2878C>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.2566C>A
  hgvsp: ENST00000449771.2:c.2566C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.687C>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.2440C>A
  hgvsp: ENST00000549151.1:c.2440C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1431C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1874C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1808C>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg856Arg
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-48132001-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132001
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132001
    reference: chr 12
allele count: 4
allele frequency: 3.376610220999139e-5
allele num: 118462
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-697C>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.2556G>C
  hgvsp: ENST00000449771.2:c.2556G>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.2430G>C
  hgvsp: ENST00000549151.1:c.2430G>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.677G>C
  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.2556G>C
  hgvsp: ENST00000389212.3:c.2556G>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: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.2868G>C
  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.2430G>C
  hgvsp: ENST00000405493.2:c.2430G>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1798G>C
  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.2430G>C
  hgvsp: ENST00000171000.4:c.2430G>C(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.2229G>C
  hgvsp: ENST00000548919.1:c.2229G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1864G>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.3390G>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1421G>C
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21555
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24230
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu852Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

12-48132006-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132006
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132006
    reference: chr 12
allele count: 1
allele frequency: 8.457231778894133e-6
allele num: 118242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.2425A>G
  hgvsp: ENSP00000448619.1:p.Met809Val
  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.2425A>G
  hgvsp: ENSP00000171000.4:p.Met809Val
  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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1416A>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.2551A>G
  hgvsp: ENSP00000373864.3:p.Met851Val
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1859A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-692T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.672A>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.2551A>G
  hgvsp: ENSP00000395708.2:p.Met851Val
  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.2425A>G
  hgvsp: ENSP00000384521.2:p.Met809Val
  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.2863A>G
  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.2224A>G
  hgvsp: ENSP00000448480.1:p.Met742Val
  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.3385A>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1793A>G
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met851Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-48132008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132008
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132008
    reference: chr 12
allele count: 2
allele frequency: 1.692247812769702e-5
allele num: 118186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2423G>A
  hgvsp: ENSP00000171000.4:p.Arg808Gln
  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.2423G>A
  hgvsp: ENSP00000384521.2:p.Arg808Gln
  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.2861G>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.2423G>A
  hgvsp: ENSP00000448619.1:p.Arg808Gln
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1857G>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1791G>A
  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.2222G>A
  hgvsp: ENSP00000448480.1:p.Arg741Gln
  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.2549G>A
  hgvsp: ENSP00000373864.3:p.Arg850Gln
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-690C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.2549G>A
  hgvsp: ENSP00000395708.2:p.Arg850Gln
  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.3383G>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.670G>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1414G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21392
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg850Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-48132009-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132009
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132009
    reference: chr 12
allele count: 11
allele frequency: 9.313194256299106e-5
allele num: 118112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1413C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1856C>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.2860C>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.2422C>T
  hgvsp: ENSP00000448619.1:p.Arg808Trp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-689G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.2548C>T
  hgvsp: ENSP00000395708.2:p.Arg850Trp
  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.2548C>T
  hgvsp: ENSP00000373864.3:p.Arg850Trp
  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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.669C>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.3382C>T
  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.2422C>T
  hgvsp: ENSP00000384521.2:p.Arg808Trp
  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.2221C>T
  hgvsp: ENSP00000448480.1:p.Arg741Trp
  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.2422C>T
  hgvsp: ENSP00000171000.4:p.Arg808Trp
  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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1790C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg850Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/12-48132012-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132012
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132012
    reference: chr 12
allele count: 1
allele frequency: 8.476731372382808e-6
allele num: 117970
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.2545G>T
  hgvsp: ENSP00000373864.3:p.Ala849Ser
  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.2545G>T
  hgvsp: ENSP00000395708.2:p.Ala849Ser
  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.2419G>T
  hgvsp: ENSP00000171000.4:p.Ala807Ser
  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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1787G>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.2419G>T
  hgvsp: ENSP00000448619.1:p.Ala807Ser
  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.2419G>T
  hgvsp: ENSP00000384521.2:p.Ala807Ser
  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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1410G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-686C>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.2857G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1853G>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.2218G>T
  hgvsp: ENSP00000448480.1:p.Ala740Ser
  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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.666G>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.3379G>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala849Ser
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-48132012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132012
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132012
    reference: chr 12
allele count: 2
allele frequency: 1.695346274476562e-5
allele num: 117970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.2419G>A
  hgvsp: ENSP00000384521.2:p.Ala807Thr
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-686C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2218G>A
  hgvsp: ENSP00000448480.1:p.Ala740Thr
  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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1787G>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1410G>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.666G>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.2857G>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.2419G>A
  hgvsp: ENSP00000448619.1:p.Ala807Thr
  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.3379G>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.2545G>A
  hgvsp: ENSP00000395708.2:p.Ala849Thr
  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.2419G>A
  hgvsp: ENSP00000171000.4:p.Ala807Thr
  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.2545G>A
  hgvsp: ENSP00000373864.3:p.Ala849Thr
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1853G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21348
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala849Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-48132013-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132013
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132013
    reference: chr 12
allele count: 1
allele frequency: 8.476587664869631e-6
allele num: 117972
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.2418C>T
  hgvsp: ENST00000405493.2:c.2418C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1786C>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.2856C>T
  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.2544C>T
  hgvsp: ENST00000389212.3:c.2544C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-685G>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.3378C>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.2544C>T
  hgvsp: ENST00000449771.2:c.2544C>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.2418C>T
  hgvsp: ENST00000171000.4:c.2418C>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.2217C>T
  hgvsp: ENST00000548919.1:c.2217C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1852C>T
  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.2418C>T
  hgvsp: ENST00000549151.1:c.2418C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.665C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1409C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala848Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

12-48132014-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132014
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132014
    reference: chr 12
allele count: 1
allele frequency: 8.483059330516958e-6
allele num: 117882
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.2543C>A
  hgvsp: ENSP00000395708.2:p.Ala848Asp
  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.2417C>A
  hgvsp: ENSP00000448619.1:p.Ala806Asp
  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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.664C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1851C>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.2543C>A
  hgvsp: ENSP00000373864.3:p.Ala848Asp
  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.2417C>A
  hgvsp: ENSP00000384521.2:p.Ala806Asp
  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.2417C>A
  hgvsp: ENSP00000171000.4:p.Ala806Asp
  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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1408C>A
  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.2216C>A
  hgvsp: ENSP00000448480.1:p.Ala739Asp
  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.3377C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1785C>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.2855C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-684G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala848Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-48132025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132025
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132025
    reference: chr 12
allele count: 1
allele frequency: 8.550808906522558e-6
allele num: 116948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2406G>A
  hgvsp: ENSP00000171000.4:p.Met802Ile
  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.3366G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1840G>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.2406G>A
  hgvsp: ENSP00000384521.2:p.Met802Ile
  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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1397G>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.2844G>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.2406G>A
  hgvsp: ENSP00000448619.1:p.Met802Ile
  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.2205G>A
  hgvsp: ENSP00000448480.1:p.Met735Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-673C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.653G>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.2532G>A
  hgvsp: ENSP00000373864.3:p.Met844Ile
  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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1774G>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.2532G>A
  hgvsp: ENSP00000395708.2:p.Met844Ile
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met844Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

12-48132027-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132027
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132027
    reference: chr 12
allele count: 7
allele frequency: 5.995717344753748e-5
allele num: 116750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1395A>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.2404A>T
  hgvsp: ENSP00000448619.1:p.Met802Leu
  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.2404A>T
  hgvsp: ENSP00000171000.4:p.Met802Leu
  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.2404A>T
  hgvsp: ENSP00000384521.2:p.Met802Leu
  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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.651A>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1772A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1838A>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.2530A>T
  hgvsp: ENSP00000373864.3:p.Met844Leu
  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.2203A>T
  hgvsp: ENSP00000448480.1:p.Met735Leu
  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.3364A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-671T>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.2842A>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.2530A>T
  hgvsp: ENSP00000395708.2:p.Met844Leu
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23429
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met844Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-48132029-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132029
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132029
    reference: chr 12
allele count: 1
allele frequency: 8.582217645039478e-6
allele num: 116520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.2840G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1770G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.2528G>T
  hgvsp: ENSP00000395708.2:p.Arg843Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2402G>T
  hgvsp: ENSP00000171000.4:p.Arg801Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1836G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.2402G>T
  hgvsp: ENSP00000384521.2:p.Arg801Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-669C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2201G>T
  hgvsp: ENSP00000448480.1:p.Arg734Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.649G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.3362G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1393G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.2528G>T
  hgvsp: ENSP00000373864.3:p.Arg843Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.2402G>T
  hgvsp: ENSP00000448619.1:p.Arg801Ile
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg843Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-48132032-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132032
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132032
    reference: chr 12
allele count: 3
allele frequency: 2.582644628099173e-5
allele num: 116160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.3361-2A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.2839-2A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.2527-2A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.2401-2A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2401-2A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1769-2A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2200-2A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.2527-2A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.648-2A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1835-2A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.2401-2A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-666T>A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1392-2A>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2527-2A>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-48132034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132034
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132034
    reference: chr 12
allele count: 3
allele frequency: 2.602585234666435e-5
allele num: 115270
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.2527-4G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.2401-4G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1392-4G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.2839-4G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2401-4G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1835-4G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2200-4G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1769-4G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.2527-4G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.2401-4G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.648-4G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.3361-4G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-664C>T
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21588
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2527-4G>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

12-48132035-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132035
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132035
    reference: chr 12
allele count: 4
allele frequency: 3.471378484396153e-5
allele num: 115228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2200-5C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2401-5C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.2839-5C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.648-5C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.2401-5C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.2527-5C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1769-5C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1392-5C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1835-5C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.2401-5C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.2527-5C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-663G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.3361-5C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17269
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21593
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2527-5C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/12-48132038-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132038
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132038
    reference: chr 12
allele count: 1
allele frequency: 8.684023134237629e-6
allele num: 115154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.2401-8G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.2401-8G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-660C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.3361-8G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.2839-8G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.648-8G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2401-8G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.2527-8G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2200-8G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1835-8G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.2527-8G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1769-8G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1392-8G>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2527-8G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-48132041-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132041
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132041
    reference: chr 12
allele count: 1
allele frequency: 8.711863816144826e-6
allele num: 114786
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.2401-11G>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.2839-11G>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.2401-11G>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.3361-11G>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1769-11G>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.2401-11G>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.*1835-11G>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.2527-11G>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.2200-11G>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1392-11G>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.2527-11G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-657C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.648-11G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

12-48132044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132044
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132044
    reference: chr 12
allele count: 11
allele frequency: 9.633742621428947e-5
allele num: 114182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1769-14G>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.2401-14G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-654C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.2401-14G>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.2527-14G>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1392-14G>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.648-14G>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.2839-14G>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.3361-14G>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.2527-14G>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.*1835-14G>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.2200-14G>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.2401-14G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15651
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19286
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP

12-48132045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132045
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132045
    reference: chr 12
allele count: 1
allele frequency: 8.77208372076703e-6
allele num: 113998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1769-15C>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.2839-15C>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.*1835-15C>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.2401-15C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-653G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2200-15C>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.2527-15C>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.2401-15C>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.2401-15C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.648-15C>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.2527-15C>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.3361-15C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1392-15C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10173
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

12-48132048-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132048
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132048
    reference: chr 12
allele count: 2
allele frequency: 1.760594376661561e-5
allele num: 113598
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.2527-18C>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.2401-18C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-650G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.2401-18C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.648-18C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1392-18C>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.*1835-18C>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.3361-18C>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.2839-18C>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.2527-18C>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.2401-18C>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.2200-18C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1769-18C>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14436
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17958
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

12-48132064-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132064
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132064
    reference: chr 12
allele count: 1
allele frequency: 8.987309918395227e-6
allele num: 111268
alternate allele: C
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.2839-34C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-634G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2401-34C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1392-34C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.648-34C>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.2401-34C>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.2200-34C>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.3361-34C>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.2527-34C>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.2527-34C>G
  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.2401-34C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1769-34C>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.*1835-34C>G
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-48132067-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132067
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132067
    reference: chr 12
allele count: 1
allele frequency: 9.034729500198764e-6
allele num: 110684
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.2527-37C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.648-37C>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.2527-37C>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.2839-37C>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.3361-37C>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.2401-37C>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.*1835-37C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1769-37C>G
  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.2401-37C>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.2401-37C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1392-37C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-631G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2200-37C>G
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14067
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-48132074-C-CCCTGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132074
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132079
    reference: chr 12
allele count: 1
allele frequency: 9.437701730874497e-6
allele num: 105958
alternate allele: CCCTGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1392-49_1392-45dupACAGG
  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.2527-49_2527-45dupACAGG
  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.3361-49_3361-45dupACAGG
  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.2200-49_2200-45dupACAGG
  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.2401-49_2401-45dupACAGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.648-49_648-45dupACAGG
  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.2527-49_2527-45dupACAGG
  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.2401-49_2401-45dupACAGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1769-49_1769-45dupACAGG
  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.*1835-49_*1835-45dupACAGG
  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.2401-49_2401-45dupACAGG
  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.2839-49_2839-45dupACAGG
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-619_451-615dupTCCTG
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16272
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

12-48132076-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132076
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132076
    reference: chr 12
allele count: 1
allele frequency: 9.419921249458354e-6
allele num: 106158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2401-46G>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1769-46G>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.648-46G>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1392-46G>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.2200-46G>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.2401-46G>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.3361-46G>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.2839-46G>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.*1835-46G>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.2527-46G>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.2527-46G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-622C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.2401-46G>C
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-48132423-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132423
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132423
    reference: chr 12
allele count: 3
allele frequency: 2.473410833539451e-5
allele num: 121290
alternate allele: G
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.2838+50T>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.2400+50T>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.647+50T>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1768+50T>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.*1834+50T>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.2400+50T>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.3360+50T>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.2400+50T>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.2199+50T>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.2526+50T>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1391+50T>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.2526+50T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-275A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

12-48132425-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132425
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132425
    reference: chr 12
allele count: 2
allele frequency: 1.648913366091746e-5
allele num: 121292
alternate allele: A
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.3360+48C>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.2400+48C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1391+48C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.647+48C>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.2400+48C>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.2400+48C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1768+48C>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.2838+48C>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.*1834+48C>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.2526+48C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-273G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.2526+48C>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.2199+48C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS

http://identifiers.org/exac.variant/12-48132432-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132432
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132432
    reference: chr 12
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
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.2526+41T>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.2526+41T>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.2400+41T>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1768+41T>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.3360+41T>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.2838+41T>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.*1834+41T>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.2400+41T>G
  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.2400+41T>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-266A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2199+41T>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.647+41T>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1391+41T>G
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

12-48132435-CTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132435
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132433
    reference: chr 12
allele count: 6
allele frequency: 4.946087644673064e-5
allele num: 121308
alternate allele: C
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.3360+36_3360+37delTA
  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.2526+36_2526+37delTA
  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.2526+36_2526+37delTA
  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.*1834+36_*1834+37delTA
  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.2400+36_2400+37delTA
  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.2199+36_2199+37delTA
  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.2838+36_2838+37delTA
  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.2400+36_2400+37delTA
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1391+36_1391+37delTA
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.647+36_647+37delTA
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-261_451-260delAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1768+36_1768+37delTA
  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.2400+36_2400+37delTA
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: CTA
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

12-48132438-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132438
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132438
    reference: chr 12
allele count: 21
allele frequency: 1.731102135025967e-4
allele num: 121310
alternate allele: C
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.2838+35A>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.*1834+35A>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1391+35A>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.2526+35A>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1768+35A>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.2526+35A>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.3360+35A>G
  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.2400+35A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-260T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2199+35A>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.2400+35A>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.2400+35A>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.647+35A>G
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-48132439-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132439
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132439
    reference: chr 12
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.2400+34C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1768+34C>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.2838+34C>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.2400+34C>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.3360+34C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1391+34C>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.2526+34C>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.2526+34C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.647+34C>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.*1834+34C>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.2199+34C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-259G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.2400+34C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8843
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

12-48132441-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132441
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132441
    reference: chr 12
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1768+32A>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.2400+32A>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1391+32A>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.647+32A>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.*1834+32A>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.2526+32A>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.3360+32A>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.2199+32A>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.2838+32A>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.2400+32A>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.2400+32A>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-257T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.2526+32A>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-48132444-T-TTGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132444
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132447
    reference: chr 12
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: TTGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.2400+28_2400+29insCCA
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1768+28_1768+29insCCA
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1391+28_1391+29insCCA
  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.*1834+28_*1834+29insCCA
  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.2400+28_2400+29insCCA
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.647+28_647+29insCCA
  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.2400+28_2400+29insCCA
  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.2199+28_2199+29insCCA
  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.3360+28_3360+29insCCA
  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.2526+28_2526+29insCCA
  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.2526+28_2526+29insCCA
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-254_451-253insTGG
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.2838+28_2838+29insCCA
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8843
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-48132447-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132447
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132447
    reference: chr 12
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-251T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2400+26A>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.2400+26A>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1391+26A>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.2838+26A>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.2199+26A>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.3360+26A>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.2526+26A>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.647+26A>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.*1834+26A>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.2400+26A>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1768+26A>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.2526+26A>C
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8843
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

12-48132449-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132449
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132449
    reference: chr 12
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
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.2400+24T>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.2400+24T>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.3360+24T>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1391+24T>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.2400+24T>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1768+24T>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.2838+24T>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.2526+24T>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.2526+24T>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.*1834+24T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-249A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.647+24T>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.2199+24T>C
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

12-48132450-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132450
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132449
    reference: chr 12
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2400+22delA
  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.2400+22delA
  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.2526+22delA
  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.2526+22delA
  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.2838+22delA
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1391+22delA
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.647+22delA
  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.*1834+22delA
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1768+22delA
  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.3360+22delA
  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.2199+22delA
  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.2400+22delA
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-247delT
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8843
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: AT
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

12-48132451-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132451
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132451
    reference: chr 12
allele count: 106029
allele frequency: 8.734430604982206e-1
allele num: 121392
alternate allele: C
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.*1834+22A>G
  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.2400+22A>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.2199+22A>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.2838+22A>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.2526+22A>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.2400+22A>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.3360+22A>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.647+22A>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.2526+22A>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1768+22A>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.2400+22A>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1391+22A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-247T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 7.75e1
  variant carriers: 2959
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 4.25e1
  variant carriers: 1262
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 2.75e1
  variant carriers: 401
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 5.25e1
  variant carriers: 1582
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.25e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 7.25e1
  variant carriers: 2562
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 6.25e1
  variant carriers: 2028
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 923
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 30559
  bin: 9.75e1
  variant carriers: 30443
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.75e1
  variant carriers: 1759
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 6.75e1
  variant carriers: 2321
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 4.75e1
  variant carriers: 1431
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 8.75e1
  variant carriers: 3664
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.25e1
  variant carriers: 635
genotype quality: GenotypeQuality
num of homozygotes: 46496
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

12-48132452-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132452
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132452
    reference: chr 12
allele count: 6
allele frequency: 4.942095118857387e-5
allele num: 121406
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.2526+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.2400+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.2400+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.*1834+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.2199+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: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.3360+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.2400+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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1391+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.2526+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.2838+21C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-246G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1768+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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.647+21C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

12-48132452-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132452
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132452
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
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.2526+21C>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.2199+21C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-246G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2400+21C>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.2400+21C>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.2526+21C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1768+21C>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.3360+21C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.647+21C>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.2838+21C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1391+21C>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.*1834+21C>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.2400+21C>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

12-48132465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132465
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132465
    reference: chr 12
allele count: 30
allele frequency: 2.470966147763776e-4
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2199+8C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.2400+8C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-233G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.3360+8C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1768+8C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.2400+8C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1391+8C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2400+8C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.2838+8C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1834+8C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.647+8C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.2526+8C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.2526+8C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2526+8C>T
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

12-48132474-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132474
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132474
    reference: chr 12
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000482843
  gene symbol: RAPGEF3
  hgvsc: ENST00000482843.1:n.2837T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-224A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2399T>C
  hgvsp: ENSP00000171000.4:p.Met800Thr
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.646T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.2399T>C
  hgvsp: ENSP00000448619.1:p.Met800Thr
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.2399T>C
  hgvsp: ENSP00000384521.2:p.Met800Thr
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2198T>C
  hgvsp: ENSP00000448480.1:p.Met733Thr
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1833T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.2525T>C
  hgvsp: ENSP00000395708.2:p.Met842Thr
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.2525T>C
  hgvsp: ENSP00000373864.3:p.Met842Thr
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1390T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.3359T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1767T>C
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Met842Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-48132497-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132497
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132497
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2175G>C
  hgvsp: ENSP00000448480.1:p.Glu725Asp
  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.2376G>C
  hgvsp: ENSP00000171000.4:p.Glu792Asp
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1810G>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.2814G>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1367G>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-201C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.2502G>C
  hgvsp: ENSP00000395708.2:p.Glu834Asp
  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.2502G>C
  hgvsp: ENSP00000373864.3:p.Glu834Asp
  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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.623G>C
  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.2376G>C
  hgvsp: ENSP00000448619.1:p.Glu792Asp
  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.3336G>C
  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.2376G>C
  hgvsp: ENSP00000384521.2:p.Glu792Asp
  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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1744G>C
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu834Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-48132502-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132502
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132502
    reference: chr 12
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
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.2809G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1805G>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.2497G>T
  hgvsp: ENSP00000373864.3:p.Val833Leu
  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.2371G>T
  hgvsp: ENSP00000448619.1:p.Val791Leu
  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.2371G>T
  hgvsp: ENSP00000384521.2:p.Val791Leu
  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.2371G>T
  hgvsp: ENSP00000171000.4:p.Val791Leu
  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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.618G>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1739G>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.2170G>T
  hgvsp: ENSP00000448480.1:p.Val724Leu
  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.3331G>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-196C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1362G>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.2497G>T
  hgvsp: ENSP00000395708.2:p.Val833Leu
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Val833Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

12-48132511-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132511
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132511
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
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.2800C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-187G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2161C>T
  hgvsp: ENSP00000448480.1:p.His721Tyr
  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.2488C>T
  hgvsp: ENSP00000373864.3:p.His830Tyr
  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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1353C>T
  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.2362C>T
  hgvsp: ENSP00000171000.4:p.His788Tyr
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1796C>T
  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.2362C>T
  hgvsp: ENSP00000384521.2:p.His788Tyr
  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.3322C>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.2362C>T
  hgvsp: ENSP00000448619.1:p.His788Tyr
  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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1730C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.609C>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.2488C>T
  hgvsp: ENSP00000395708.2:p.His830Tyr
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His830Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

12-48132512-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132512
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132512
    reference: chr 12
allele count: 7
allele frequency: 5.765587678115476e-5
allele num: 121410
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.2361C>T
  hgvsp: ENST00000405493.2:c.2361C>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.2361C>T
  hgvsp: ENST00000171000.4:c.2361C>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.2160C>T
  hgvsp: ENST00000548919.1:c.2160C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-186G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.2487C>T
  hgvsp: ENST00000389212.3:c.2487C>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.2799C>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.2487C>T
  hgvsp: ENST00000449771.2:c.2487C>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.3321C>T
  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.2361C>T
  hgvsp: ENST00000549151.1:c.2361C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.608C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1795C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1352C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1729C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn829Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

12-48132523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132523
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132523
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.2476C>T
  hgvsp: ENSP00000395708.2:p.His826Tyr
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-175G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.2350C>T
  hgvsp: ENSP00000448619.1:p.His784Tyr
  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.2149C>T
  hgvsp: ENSP00000448480.1:p.His717Tyr
  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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1718C>T
  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.2350C>T
  hgvsp: ENSP00000171000.4:p.His784Tyr
  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.2476C>T
  hgvsp: ENSP00000373864.3:p.His826Tyr
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1784C>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.3310C>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.2788C>T
  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.2350C>T
  hgvsp: ENSP00000384521.2:p.His784Tyr
  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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.597C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1341C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His826Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-48132526-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132526
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132526
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2146A>C
  hgvsp: ENSP00000448480.1:p.Ile716Leu
  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.2473A>C
  hgvsp: ENSP00000395708.2:p.Ile825Leu
  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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1715A>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.2785A>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.2473A>C
  hgvsp: ENSP00000373864.3:p.Ile825Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1781A>C
  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.2347A>C
  hgvsp: ENSP00000448619.1:p.Ile783Leu
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-172T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.594A>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.2347A>C
  hgvsp: ENSP00000171000.4:p.Ile783Leu
  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.2347A>C
  hgvsp: ENSP00000384521.2:p.Ile783Leu
  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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1338A>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.3307A>C
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile825Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-48132530-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132530
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132530
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
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.3303C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1777C>T
  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.2469C>T
  hgvsp: ENST00000389212.3:c.2469C>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.2781C>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.2343C>T
  hgvsp: ENST00000171000.4:c.2343C>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.2469C>T
  hgvsp: ENST00000449771.2:c.2469C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*138C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.590C>T
  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.2343C>T
  hgvsp: ENST00000549151.1:c.2343C>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.2343C>T
  hgvsp: ENST00000405493.2:c.2343C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1711C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-168G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1334C>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.2142C>T
  hgvsp: ENST00000548919.1:c.2142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr823Thr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

12-48132531-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132531
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132531
    reference: chr 12
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.2342C>T
  hgvsp: ENSP00000384521.2:p.Thr781Ile
  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.3302C>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.2342C>T
  hgvsp: ENSP00000448619.1:p.Thr781Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-167G>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.2780C>T
  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.2342C>T
  hgvsp: ENSP00000171000.4:p.Thr781Ile
  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.2468C>T
  hgvsp: ENSP00000395708.2:p.Thr823Ile
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*137C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000449905
  ensembl transcript: ENST00000547856
  gene symbol: RAPGEF3
  hgvsc: ENST00000547856.1:c.*1776C>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.2141C>T
  hgvsp: ENSP00000448480.1:p.Thr714Ile
  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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1333C>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.2468C>T
  hgvsp: ENSP00000373864.3:p.Thr823Ile
  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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1710C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.589C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5287
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr823Ile
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

12-48132547-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132547
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132547
    reference: chr 12
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2336-10C>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.*1770-10C>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.2135-10C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.583-10C>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.2336-10C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-151G>T
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.2774-10C>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.2462-10C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1327-10C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1704-10C>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.2336-10C>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.3296-10C>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.2462-10C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*131-10C>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-48132550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132550
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132550
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*131-13C>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.2336-13C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1704-13C>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.2336-13C>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: ENST00000479866
  gene symbol: RAPGEF3
  hgvsc: ENST00000479866.1:n.3296-13C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1327-13C>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.2336-13C>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.*1770-13C>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.2135-13C>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.2774-13C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.583-13C>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.2462-13C>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.2462-13C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-148G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-48132556-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132556
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132556
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*131-19A>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.583-19A>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1327-19A>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.3296-19A>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.2336-19A>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.2336-19A>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.*1770-19A>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.2774-19A>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.2462-19A>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.2135-19A>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.2462-19A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-142T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1704-19A>G
  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.2336-19A>G
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-48132557-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132557
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132557
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
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.3296-20C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1327-20C>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.2774-20C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1704-20C>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.2462-20C>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.*1770-20C>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.2135-20C>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.2462-20C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*131-20C>G
  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.2336-20C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-141G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2336-20C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.583-20C>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.2336-20C>G
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-48132562-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132562
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132562
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.583-25A>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.2135-25A>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1704-25A>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.3296-25A>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1327-25A>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.2336-25A>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.2774-25A>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.2462-25A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-136T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.2336-25A>G
  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.2336-25A>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.*1770-25A>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.2462-25A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*131-25A>G
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

12-48132572-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132572
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132572
    reference: chr 12
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2135-35T>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.*1770-35T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-126A>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.3296-35T>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.2462-35T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*131-35T>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1704-35T>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.2462-35T>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.2336-35T>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.2774-35T>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1327-35T>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.2336-35T>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.2336-35T>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.583-35T>C
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-48132578-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132578
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132578
    reference: chr 12
allele count: 4
allele frequency: 3.295598727898891e-5
allele num: 121374
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.2462-41A>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.2135-41A>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.3296-41A>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.2336-41A>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.2336-41A>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1704-41A>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.*1770-41A>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.583-41A>G
  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.2336-41A>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1327-41A>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.2774-41A>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.2462-41A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*131-41A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-120T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

12-48132582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132582
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132582
    reference: chr 12
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
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.2774-45G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-116C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000395708
  ensembl transcript: ENST00000449771
  gene symbol: RAPGEF3
  hgvsc: ENST00000449771.2:c.2462-45G>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.*1770-45G>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.3296-45G>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.2336-45G>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1704-45G>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1327-45G>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.2135-45G>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.2336-45G>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.2336-45G>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*131-45G>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.583-45G>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.2462-45G>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

12-48132583-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132583
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132583
    reference: chr 12
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2336-46A>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1327-46A>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1704-46A>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.2462-46A>G
  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.2336-46A>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.2774-46A>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.3296-46A>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.2135-46A>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.2336-46A>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.2462-46A>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.*1770-46A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-115T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.583-46A>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*131-46A>G
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-48132589-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132589
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132589
    reference: chr 12
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000373864
  ensembl transcript: ENST00000389212
  gene symbol: RAPGEF3
  hgvsc: ENST00000389212.3:c.2462-52T>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1327-52T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.451-109A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448619
  ensembl transcript: ENST00000549151
  gene symbol: RAPGEF3
  hgvsc: ENST00000549151.1:c.2336-52T>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.2774-52T>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.2135-52T>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.*1770-52T>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.3296-52T>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.2336-52T>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.2462-52T>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.583-52T>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1704-52T>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.2336-52T>C
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*131-52T>C
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

12-48132888-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132888
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132888
    reference: chr 12
allele count: 1
allele frequency: 8.585901948999742e-6
allele num: 116470
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.2134+38C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1703+38C>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.2335+38C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1326+38C>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.2335+38C>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.2461+38C>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.2461+38C>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.2773+38C>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.*1769+38C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.547+94G>A
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.3295+38C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.582+38C>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.2335+38C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*130+38C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

12-48132889-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132889
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132889
    reference: chr 12
allele count: 20935
allele frequency: 1.796101511693749e-1
allele num: 116558
alternate allele: A
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.3295+37C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*130+37C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1703+37C>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.2134+37C>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.*1769+37C>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.2461+37C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1326+37C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.547+95G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.2335+37C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.582+37C>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.2773+37C>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.2461+37C>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.2335+37C>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.2335+37C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 255
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 1.75e1
  variant carriers: 1971
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 5.25e1
  variant carriers: 897
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 3.75e1
  variant carriers: 2204
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 1242
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 4.25e1
  variant carriers: 1680
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 7.5e0
  variant carriers: 197
genotype depth: GenotypeDepth
  all individuals: 15103
  bin: 2.25e1
  variant carriers: 2715
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 1.25e1
  variant carriers: 929
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
num of homozygotes: 2058
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

12-48132889-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132889
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132889
    reference: chr 12
allele count: 3
allele frequency: 2.57382590641569e-5
allele num: 116558
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.*1769+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: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*130+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.2134+37C>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.2335+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.2773+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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1703+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.2335+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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.582+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.2461+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.2461+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.3295+37C>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.2335+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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1326+37C>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.547+95G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-48132889-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132889
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132889
    reference: chr 12
allele count: 1
allele frequency: 8.5794196880523e-6
allele num: 116558
alternate allele: C
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.2773+37C>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.2461+37C>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.*1769+37C>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.2335+37C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*130+37C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1703+37C>G
  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.2335+37C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.582+37C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.547+95G>C
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.3295+37C>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.2335+37C>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.2461+37C>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.2134+37C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1326+37C>G
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

12-48132892-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132892
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132892
    reference: chr 12
allele count: 1
allele frequency: 8.51368148614824e-6
allele num: 117458
alternate allele: A
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.2773+34C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.547+98G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.582+34C>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.2335+34C>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.2335+34C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1326+34C>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.2461+34C>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.2461+34C>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.3295+34C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*130+34C>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.*1769+34C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1703+34C>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.2134+34C>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.2335+34C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8233
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

12-48132893-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132893
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132893
    reference: chr 12
allele count: 3
allele frequency: 2.552496341421911e-5
allele num: 117532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000171000
  ensembl transcript: ENST00000171000
  gene symbol: RAPGEF3
  hgvsc: ENST00000171000.4:c.2335+33C>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.2335+33C>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1326+33C>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.2461+33C>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.2461+33C>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.2134+33C>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.2773+33C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.582+33C>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.3295+33C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*130+33C>T
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.547+99G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000384521
  ensembl transcript: ENST00000405493
  gene symbol: RAPGEF3
  hgvsc: ENST00000405493.2:c.2335+33C>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.*1769+33C>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1703+33C>T
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

12-48132895-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132895
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132895
    reference: chr 12
allele count: 1
allele frequency: 8.507886811073865e-6
allele num: 117538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000448480
  ensembl transcript: ENST00000548919
  gene symbol: RAPGEF3
  hgvsc: ENST00000548919.1:c.2134+31T>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.547+101A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.582+31T>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.2461+31T>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: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1703+31T>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.3295+31T>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.2335+31T>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.2461+31T>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.*1769+31T>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.2773+31T>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: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1326+31T>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.2335+31T>A
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*130+31T>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.2335+31T>A
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17547
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-48132898-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48132898
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48132898
    reference: chr 12
allele count: 2
allele frequency: 1.698542650405952e-5
allele num: 117748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000395360
  gene symbol: RAPGEF3
  hgvsc: ENST00000395360.2:n.1703+28C>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.2773+28C>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.2335+28C>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.2461+28C>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.2335+28C>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.2134+28C>G
  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.2335+28C>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.3295+28C>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.*1769+28C>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: ENST00000490387
  gene symbol: RAPGEF3
  hgvsc: ENST00000490387.1:n.582+28C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257433
  ensembl transcript: ENST00000547799
  gene symbol: RP1-197B17.3
  hgvsc: ENST00000547799.1:n.547+104G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl transcript: ENST00000488250
  gene symbol: RAPGEF3
  hgvsc: ENST00000488250.1:n.1326+28C>G
  variant of: http://identifiers.org/hgnc/16629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079337
  ensembl protein: ENSP00000447691
  ensembl transcript: ENST00000548434
  gene symbol: RAPGEF3
  hgvsc: ENST00000548434.1:c.*130+28C>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.2461+28C>G
  variant of: http://identifiers.org/hgnc/16629
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 167
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1480
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6288
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 366
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2828
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 428
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40811
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65466
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.898958971218616e-4
allele num: 16330
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.62e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.14e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

FS
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

DP
type: SiteQuality
SIO_000300: 1.610632e6

GenotypeDepth
all individuals: 126
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6273
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1837
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2828
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 444
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.121636925713936e-5
allele num: 65342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5974
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.143e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.073e0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

FS
type: SiteQuality
SIO_000300: 2.231e0

DP
type: SiteQuality
SIO_000300: 1.60588e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 301
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24205
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2675
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 628
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40046
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6236
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65260
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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FS
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QD
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InbreedingCoeff
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MQ
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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European (Finnish)
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allele frequency: 3.370407819346141e-4
allele num: 5934
num of homozygotes: 0

African
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European (Non-Finnish)
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East Asian
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Other
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ClippingRankSum
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MQ
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VQSLOD
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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South Asian
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allele frequency: 3.70004933399112e-4
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Latino
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East Asian
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European (Non-Finnish)
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Other
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QD
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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DP
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VQSLOD
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MQ
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BaseQRankSum
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InbreedingCoeff
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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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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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MQ
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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Other
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South Asian
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European (Non-Finnish)
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QD
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ClippingRankSum
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
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DP
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InbreedingCoeff
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5798
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

Latino
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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: 6.239081607187422e-5
allele num: 16028
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64652
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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SIO_000300: 9.77e-1

ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 7.636e0

MQRankSum
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DP
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SIO_000300: 1.572839e6

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

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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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.293104516448795e-5
allele num: 64564
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.728907330567082e-4
allele num: 5784
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 1.17e-1

VQSLOD
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FS
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DP
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InbreedingCoeff
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SIO_000300: -8.0e-4

ClippingRankSum
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SIO_000300: -5.07e-1

ReadPosRankSum
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SIO_000300: 5.77e-1

BaseQRankSum
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SIO_000300: -9.94e-1

QD
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SIO_000300: 1.178e1

GenotypeDepth
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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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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551494088807522e-5
allele num: 64454
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.275e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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VQSLOD
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SIO_000300: -1.7e-3

MQRankSum
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SIO_000300: -3.3e-2

FS
type: SiteQuality
SIO_000300: 7.716e0

ClippingRankSum
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SIO_000300: -1.398e0

ReadPosRankSum
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SIO_000300: 1.7e0

QD
type: SiteQuality
SIO_000300: 1.02e1

DP
type: SiteQuality
SIO_000300: 1.560444e6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.883239171374765e-4
allele num: 15930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5748
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.07e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 2.345e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.429999999999999e-1

ReadPosRankSum
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SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

DP
type: SiteQuality
SIO_000300: 1.546673e6

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
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5704
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.809627216793341e-4
allele num: 11052
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: 1
allele frequency: 1.567840456555141e-5
allele num: 63782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.1e-3

MQRankSum
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SIO_000300: 5.53e-1

ReadPosRankSum
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SIO_000300: 6.57e-1

DP
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SIO_000300: 1.513154e6

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
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 2
allele frequency: 3.51123595505618e-4
allele num: 5696
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 63756
num of homozygotes: 0

South Asian
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Latino
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allele frequency: 9.053050878145935e-5
allele num: 11046
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Other
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East Asian
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FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56907048264608e-5
allele num: 63732
num of homozygotes: 0

Other
type: Population
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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
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South Asian
type: Population
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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SIO_000300: -6.45e-1

QD
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SIO_000300: 1.17e1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

DP
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SIO_000300: 1.501559e6

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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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574158612221768e-5
allele num: 63526
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11008
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

DP
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SIO_000300: 1.478605e6

ClippingRankSum
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SIO_000300: 6.54e-1

VQSLOD
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FS
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ReadPosRankSum
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SIO_000300: 1.47e-1

MQRankSum
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SIO_000300: 5.590000000000001e-1

InbreedingCoeff
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SIO_000300: -1.1e-3

MQ
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SIO_000300: 5.98e1

BaseQRankSum
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SIO_000300: -5.008e0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 11

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5614
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.21153380179307e-4
allele num: 8254
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: 1
allele frequency: 9.134088417975886e-5
allele num: 10948
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.423780294880719e-4
allele num: 63212
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.6e-3

ClippingRankSum
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SIO_000300: 1.99e-1

ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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MQRankSum
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SIO_000300: 1.72e-1

QD
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 2.019e0

DP
type: SiteQuality
SIO_000300: 1.452984e6

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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variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15636
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5608
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.58463537540012e-5
allele num: 63106
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.6e-3

BaseQRankSum
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SIO_000300: -5.5e-1

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

ClippingRankSum
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SIO_000300: 0.0e0

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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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.180256964762753e-5
allele num: 62888
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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South Asian
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QD
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 61674
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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Other
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African
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Latino
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allele frequency: 9.38790837401427e-5
allele num: 10652
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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FS
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DP
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InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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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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num of homozygotes: 0

Other
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African
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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MQ
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ClippingRankSum
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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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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East Asian
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allele frequency: 1.312335958005249e-4
allele num: 7620
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African
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European (Finnish)
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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FS
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SIO_000300: 0.0e0

VQSLOD
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MQRankSum
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SIO_000300: -3.204e0

QD
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SIO_000300: 8.68e0

ClippingRankSum
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SIO_000300: -2.99e-1

BaseQRankSum
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SIO_000300: 2.99e-1

DP
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SIO_000300: 1.174123e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

MQ
type: SiteQuality
SIO_000300: 4.941e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

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
all individuals: 1139
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5026
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.126126126126126e-4
allele num: 8880
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58944
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.172503e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQRankSum
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SIO_000300: 3.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

FS
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SIO_000300: 1.921e0

QD
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BaseQRankSum
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SIO_000300: -2.068e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

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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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49802087081684e-5
allele num: 66696
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6566
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: -4.504e0

ReadPosRankSum
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SIO_000300: 1.19e0

DP
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SIO_000300: 4.322576e6

VQSLOD
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SIO_000300: 9.65e-1

FS
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SIO_000300: 3.239e0

ClippingRankSum
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SIO_000300: 1.48e-1

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.165e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

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

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

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

East Asian
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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

Latino
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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: 2
allele frequency: 2.99895036737142e-5
allele num: 66690
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 1.2e-3

ClippingRankSum
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SIO_000300: 1.01e0

VQSLOD
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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QD
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BaseQRankSum
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SIO_000300: -4.965e0

FS
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SIO_000300: 0.0e0

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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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
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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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: 10404
num of homozygotes: 0

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

Other
type: Population
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: 66700
num of homozygotes: 0

ClippingRankSum
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SIO_000300: -1.087e0

ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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QD
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FS
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MQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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Latino
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East Asian
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allele frequency: 6.933210076265311e-4
allele num: 8654
num of homozygotes: 0

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

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

GenotypeDepth
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variant carriers: 4

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: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

European (Finnish)
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South Asian
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allele num: 16510
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 17
allele frequency: 2.548496387131592e-4
allele num: 66706
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.157139551029854e-4
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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QD
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ClippingRankSum
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BaseQRankSum
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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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Other
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allele count: 0
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African
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South Asian
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.763e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

FS
type: SiteQuality
SIO_000300: 1.596e0

QD
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SIO_000300: 7.13e0

ReadPosRankSum
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SIO_000300: 1.06e0

MQRankSum
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SIO_000300: -3.06e-1

InbreedingCoeff
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SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.010999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.886e1

DP
type: SiteQuality
SIO_000300: 4.327478e6

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: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 4.75e1
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GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-1

MQ
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SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 4.327928e6

InbreedingCoeff
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SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

VQSLOD
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SIO_000300: 5.25e-1

FS
type: SiteQuality
SIO_000300: 7.59e0

QD
type: SiteQuality
SIO_000300: 8.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.16e-1

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: 1

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 7.75e1
variant carriers: 0

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

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

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

Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.328771e6

FS
type: SiteQuality
SIO_000300: 3.736e0

QD
type: SiteQuality
SIO_000300: 7.5e0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 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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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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 774
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variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 6.99e0

DP
type: SiteQuality
SIO_000300: 4.32942e6

FS
type: SiteQuality
SIO_000300: 3.724e0

VQSLOD
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MQRankSum
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SIO_000300: -3.751e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.508e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

MQ
type: SiteQuality
SIO_000300: 5.51e1

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: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 42
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GenotypeQuality
all individuals: 572
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

VQSLOD
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SIO_000300: -7.662e0

MQRankSum
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ReadPosRankSum
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SIO_000300: -3.412e0

MQ
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SIO_000300: 5.47e1

ClippingRankSum
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SIO_000300: -1.684e0

FS
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SIO_000300: 0.0e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.329972e6

BaseQRankSum
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SIO_000300: 3.95e0

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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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.009e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.88e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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MQRankSum
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QD
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SIO_000300: 6.87e0

MQ
type: SiteQuality
SIO_000300: 5.437e1

DP
type: SiteQuality
SIO_000300: 4.33015e6

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 3948

GenotypeDepth
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variant carriers: 3320

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 58746

GenotypeQuality
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GenotypeQuality
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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: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 79

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 123
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variant carriers: 103

African
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allele count: 9348
allele frequency: 8.983278877570632e-1
allele num: 10406
num of homozygotes: 4198

Latino
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allele count: 10839
allele frequency: 9.361720504404906e-1
allele num: 11578
num of homozygotes: 5072

European (Non-Finnish)
type: Population
allele count: 55650
allele frequency: 8.340577320823717e-1
allele num: 66722
num of homozygotes: 23250

East Asian
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allele count: 8513
allele frequency: 9.837069563207765e-1
allele num: 8654
num of homozygotes: 4187

Other
type: Population
allele count: 810
allele frequency: 8.920704845814978e-1
allele num: 908
num of homozygotes: 362

South Asian
type: Population
allele count: 14933
allele frequency: 9.043725775193798e-1
allele num: 16512
num of homozygotes: 6763

European (Finnish)
type: Population
allele count: 5936
allele frequency: 8.977616454930429e-1
allele num: 6612
num of homozygotes: 2664

VQSLOD
type: SiteQuality
SIO_000300: 5.0e0

BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.95e-1

MQ
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SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.06e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 6.47e-1

DP
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SIO_000300: 6.029639e6

QD
type: SiteQuality
SIO_000300: 3.083e1

GenotypeDepth
all individuals: 4508
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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
all individuals: 18
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GenotypeQuality
all individuals: 21
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GenotypeQuality
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GenotypeQuality
all individuals: 847
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 49762
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variant carriers: 6

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993946114424431e-5
allele num: 66734
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African
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South Asian
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East Asian
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European (Finnish)
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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QD
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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Other
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FS
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QD
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.816860465116279e-3
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African
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European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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East Asian
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QD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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DP
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MQRankSum
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FS
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

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 (Finnish)
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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QD
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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European (Finnish)
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African
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Other
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QD
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MQRankSum
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FS
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DP
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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African
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DP
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BaseQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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FS
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InbreedingCoeff
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QD
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VQSLOD
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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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Latino
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African
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European (Finnish)
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South Asian
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FS
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MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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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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South Asian
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African
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European (Non-Finnish)
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allele frequency: 8.990380293086398e-5
allele num: 66738
num of homozygotes: 0

Latino
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East Asian
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European (Finnish)
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Other
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
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Other
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num of homozygotes: 0

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
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

QD
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SIO_000300: 1.031e1

ReadPosRankSum
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ClippingRankSum
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SIO_000300: -1.853e0

VQSLOD
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MQRankSum
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FS
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MQ
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DP
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SIO_000300: 3.941587e6

InbreedingCoeff
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SIO_000300: 1.0e-4

BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

ReadPosRankSum
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 3.8e-3

MQ
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SIO_000300: 5.974e1

DP
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SIO_000300: 3.939288e6

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
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5862
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544258447093706e-5
allele num: 64756
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.86e0

QD
type: SiteQuality
SIO_000300: 1.181e1

DP
type: SiteQuality
SIO_000300: 1.578864e6

MQ
type: SiteQuality
SIO_000300: 5.855e1

GenotypeDepth
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variant carriers: 389

GenotypeDepth
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variant carriers: 2499

GenotypeDepth
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bin: 2.75e1
variant carriers: 2940

GenotypeDepth
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variant carriers: 171

GenotypeDepth
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variant carriers: 73

GenotypeDepth
all individuals: 754
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variant carriers: 626

GenotypeQuality
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variant carriers: 137

GenotypeQuality
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variant carriers: 62

GenotypeQuality
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variant carriers: 22

GenotypeQuality
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GenotypeQuality
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variant carriers: 29

GenotypeQuality
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variant carriers: 17455

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 146

GenotypeQuality
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variant carriers: 25

GenotypeQuality
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GenotypeQuality
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variant carriers: 136

GenotypeQuality
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variant carriers: 138

GenotypeQuality
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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: 69

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 95

Other
type: Population
allele count: 143
allele frequency: 1.678403755868545e-1
allele num: 852
num of homozygotes: 9

South Asian
type: Population
allele count: 2980
allele frequency: 1.95000654364612e-1
allele num: 15282
num of homozygotes: 330

East Asian
type: Population
allele count: 3183
allele frequency: 3.756195421288648e-1
allele num: 8474
num of homozygotes: 560

Latino
type: Population
allele count: 1344
allele frequency: 1.187279151943463e-1
allele num: 11320
num of homozygotes: 73

European (Non-Finnish)
type: Population
allele count: 10868
allele frequency: 1.679856559910968e-1
allele num: 64696
num of homozygotes: 914

African
type: Population
allele count: 1241
allele frequency: 1.231150793650794e-1
allele num: 10080
num of homozygotes: 71

European (Finnish)
type: Population
allele count: 1176
allele frequency: 2.008882815169115e-1
allele num: 5854
num of homozygotes: 101

BaseQRankSum
type: SiteQuality
SIO_000300: -2.187e0

VQSLOD
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SIO_000300: 5.03e0

DP
type: SiteQuality
SIO_000300: 1.693058e6

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 3.47e-2

QD
type: SiteQuality
SIO_000300: 1.503e1

MQRankSum
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SIO_000300: 7.4e-2

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

GenotypeDepth
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bin: 2.75e1
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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GenotypeDepth
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GenotypeQuality
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variant carriers: 3

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5854
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

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

African
type: Population
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.637071843699765e-5
allele num: 64696
num of homozygotes: 0

South Asian
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VQSLOD
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FS
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DP
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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QD
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SIO_000300: 1.503e1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64696
num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.833922261484099e-5
allele num: 11320
num of homozygotes: 0

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

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

African
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allele count: 0
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num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeDepth
all individuals: 120
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15442
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.559093e6

FS
type: SiteQuality
SIO_000300: 1.848e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.457e0

VQSLOD
type: SiteQuality
SIO_000300: 7.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.135e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 120
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8250
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17296
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34527
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1958
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2397
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2132
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 921
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1758
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7247
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.067484662576687e-5
allele num: 65200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.859988168014199e-5
allele num: 10142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5890
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 9.68e0

FS
type: SiteQuality
SIO_000300: 8.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.788e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.82e0

DP
type: SiteQuality
SIO_000300: 1.561741e6

GenotypeDepth
all individuals: 38
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1767
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2344
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7270
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2117
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 164
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1902
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34702
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533507130808158e-5
allele num: 65210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5878
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.566083e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e-1

MQ
type: SiteQuality
SIO_000300: 5.763e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.518e0

FS
type: SiteQuality
SIO_000300: 8.952999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 18611
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 162
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8321
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 2.25e1
variant carriers: 0