11-47189691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189691
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189691
    reference: chr 11
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*428C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.246C>T
  hgvsp: ENST00000319543.6:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.645C>T
  hgvsp: ENST00000426335.2:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.364C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.645C>T
  hgvsp: ENST00000527927.1:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.1053C>T
  hgvsp: ENST00000524782.1:c.1053C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.1059C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*428C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*359C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.732C>T
  hgvsp: ENST00000419701.2:c.732C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.217C>T
  hgvsp: ENST00000527776.1:c.217C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*428C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-97C>T
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe351Phe
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

11-47189694-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189694
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189694
    reference: chr 11
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.243T>C
  hgvsp: ENST00000319543.6:c.243T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*425T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.642T>C
  hgvsp: ENST00000527927.1:c.642T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.214T>C
  hgvsp: ENST00000527776.1:c.214T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*425T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.1050T>C
  hgvsp: ENST00000524782.1:c.1050T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.642T>C
  hgvsp: ENST00000426335.2:c.642T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.729T>C
  hgvsp: ENST00000419701.2:c.729T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*425T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.361T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-100T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.1056T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*356T>C
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr350Thr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

11-47189703-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189703
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189703
    reference: chr 11
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.205T>C
  hgvsp: ENST00000527776.1:c.205T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.633T>C
  hgvsp: ENST00000527927.1:c.633T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*416T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*416T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.352T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.1041T>C
  hgvsp: ENST00000524782.1:c.1041T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.720T>C
  hgvsp: ENST00000419701.2:c.720T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.1047T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.234T>C
  hgvsp: ENST00000319543.6:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*347T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-109T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.633T>C
  hgvsp: ENST00000426335.2:c.633T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*416T>C
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12991
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp347Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ

11-47189705-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189705
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189705
    reference: chr 11
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.203G>A
  hgvsp: ENSP00000434022.1:p.Asp69Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.232G>A
  hgvsp: ENSP00000327309.6:p.Asp78Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*414G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.631G>A
  hgvsp: ENSP00000400226.2:p.Asp211Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.718G>A
  hgvsp: ENSP00000389264.2:p.Asp240Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.1039G>A
  hgvsp: ENSP00000434442.1:p.Asp347Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*414G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*414G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.1045G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.631G>A
  hgvsp: ENSP00000434433.1:p.Asp211Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-111G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.350G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*345G>A
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp347Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

11-47189706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189706
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189706
    reference: chr 11
allele count: 6
allele frequency: 4.943153732081068e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.231C>T
  hgvsp: ENST00000319543.6:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*413C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.349C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.630C>T
  hgvsp: ENST00000527927.1:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*413C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.630C>T
  hgvsp: ENST00000426335.2:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*344C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*413C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.1038C>T
  hgvsp: ENST00000524782.1:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-112C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.1044C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.717C>T
  hgvsp: ENST00000419701.2:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.202C>T
  hgvsp: ENST00000527776.1:c.202C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp346Asp
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-47189708-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189708
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189708
    reference: chr 11
allele count: 20
allele frequency: 1.647717910693689e-4
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*342G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.1042G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.200G>A
  hgvsp: ENSP00000434022.1:p.Asp68Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.628G>A
  hgvsp: ENSP00000434433.1:p.Asp210Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.347G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.715G>A
  hgvsp: ENSP00000389264.2:p.Asp239Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.229G>A
  hgvsp: ENSP00000327309.6:p.Asp77Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*411G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.1036G>A
  hgvsp: ENSP00000434442.1:p.Asp346Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.628G>A
  hgvsp: ENSP00000400226.2:p.Asp210Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-114G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*411G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*411G>A
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp346Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

11-47189712-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189712
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189712
    reference: chr 11
allele count: 4
allele frequency: 3.29549012176836e-5
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*407G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.196G>C
  hgvsp: ENSP00000434022.1:p.Leu66Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.343G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.624G>C
  hgvsp: ENSP00000400226.2:p.Leu208Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*338G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*407G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*407G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-118G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.624G>C
  hgvsp: ENSP00000434433.1:p.Leu208Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.1032G>C
  hgvsp: ENSP00000434442.1:p.Leu344Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.1038G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.225G>C
  hgvsp: ENSP00000327309.6:p.Leu75Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.711G>C
  hgvsp: ENSP00000389264.2:p.Leu237Phe
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12992
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu344Phe
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

11-47189720-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189720
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189720
    reference: chr 11
allele count: 3
allele frequency: 2.472024918011174e-5
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.616C>G
  hgvsp: ENSP00000434433.1:p.Leu206Val
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.335C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.188C>G
  hgvsp: ENSP00000434022.1:p.Leu64Val
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.616C>G
  hgvsp: ENSP00000400226.2:p.Leu206Val
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.1030C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*399C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.703C>G
  hgvsp: ENSP00000389264.2:p.Leu235Val
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*399C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*330C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.1024C>G
  hgvsp: ENSP00000434442.1:p.Leu342Val
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-126C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.217C>G
  hgvsp: ENSP00000327309.6:p.Leu73Val
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*399C>G
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu342Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

11-47189721-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189721
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189721
    reference: chr 11
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.702G>C
  hgvsp: ENSP00000389264.2:p.Gln234His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*398G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-127G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.216G>C
  hgvsp: ENSP00000327309.6:p.Gln72His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*398G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.1029G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.615G>C
  hgvsp: ENSP00000434433.1:p.Gln205His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*398G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.187G>C
  hgvsp: ENSP00000434022.1:p.Gln63His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.1023G>C
  hgvsp: ENSP00000434442.1:p.Gln341His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.615G>C
  hgvsp: ENSP00000400226.2:p.Gln205His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*329G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.334G>C
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln341His
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

11-47189724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189724
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189724
    reference: chr 11
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.612G>A
  hgvsp: ENST00000426335.2:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.1026G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*395G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*326G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.331G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.1020G>A
  hgvsp: ENST00000524782.1:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.213G>A
  hgvsp: ENST00000319543.6:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.612G>A
  hgvsp: ENST00000527927.1:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*395G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.699G>A
  hgvsp: ENST00000419701.2:c.699G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-130G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*395G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.184G>A
  hgvsp: ENST00000527776.1:c.184G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser340Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

11-47189725-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189725
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189725
    reference: chr 11
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*394C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*394C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.1019C>T
  hgvsp: ENSP00000434442.1:p.Ser340Leu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.698C>T
  hgvsp: ENSP00000389264.2:p.Ser233Leu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.611C>T
  hgvsp: ENSP00000434433.1:p.Ser204Leu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.212C>T
  hgvsp: ENSP00000327309.6:p.Ser71Leu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.1025C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.330C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.611C>T
  hgvsp: ENSP00000400226.2:p.Ser204Leu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.183C>T
  hgvsp: ENSP00000434022.1:p.Ser62Leu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*394C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-131C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*325C>T
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser340Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-47189728-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189728
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189728
    reference: chr 11
allele count: 55
allele frequency: 4.532568565400844e-4
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.1016G>T
  hgvsp: ENSP00000434442.1:p.Arg339Leu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.1022G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.180G>T
  hgvsp: ENSP00000434022.1:p.Arg61Leu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.608G>T
  hgvsp: ENSP00000434433.1:p.Arg203Leu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*322G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*391G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*391G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.695G>T
  hgvsp: ENSP00000389264.2:p.Arg232Leu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*391G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-134G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.209G>T
  hgvsp: ENSP00000327309.6:p.Arg70Leu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.608G>T
  hgvsp: ENSP00000400226.2:p.Arg203Leu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.327G>T
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg339Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

11-47189728-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189728
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189728
    reference: chr 11
allele count: 244
allele frequency: 2.01081223628692e-3
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.1016G>A
  hgvsp: ENSP00000434442.1:p.Arg339His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.695G>A
  hgvsp: ENSP00000389264.2:p.Arg232His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.209G>A
  hgvsp: ENSP00000327309.6:p.Arg70His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-134G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.180G>A
  hgvsp: ENSP00000434022.1:p.Arg61His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.327G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.608G>A
  hgvsp: ENSP00000400226.2:p.Arg203His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.608G>A
  hgvsp: ENSP00000434433.1:p.Arg203His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*322G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*391G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*391G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.1022G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*391G>A
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12915
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg339His
num of homozygotes: 3
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

11-47189729-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189729
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189729
    reference: chr 11
allele count: 3
allele frequency: 2.472310126582278e-5
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.1015C>T
  hgvsp: ENSP00000434442.1:p.Arg339Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-135C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*390C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.607C>T
  hgvsp: ENSP00000400226.2:p.Arg203Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.1021C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.326C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.208C>T
  hgvsp: ENSP00000327309.6:p.Arg70Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.607C>T
  hgvsp: ENSP00000434433.1:p.Arg203Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*390C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.694C>T
  hgvsp: ENSP00000389264.2:p.Arg232Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.179C>T
  hgvsp: ENSP00000434022.1:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*321C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*390C>T
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg339Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP

11-47189734-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189734
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189734
    reference: chr 11
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*316C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*385C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.1016C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.1010C>G
  hgvsp: ENSP00000434442.1:p.Ser337Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.174C>G
  hgvsp: ENSP00000434022.1:p.Ser59Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-140C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.689C>G
  hgvsp: ENSP00000389264.2:p.Ser230Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.203C>G
  hgvsp: ENSP00000327309.6:p.Ser68Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.602C>G
  hgvsp: ENSP00000434433.1:p.Ser201Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*385C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*385C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.321C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.602C>G
  hgvsp: ENSP00000400226.2:p.Ser201Cys
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser337Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/11-47189735-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189735
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189735
    reference: chr 11
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*384T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.1015T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*384T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*384T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*315T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.202T>G
  hgvsp: ENSP00000327309.6:p.Ser68Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.601T>G
  hgvsp: ENSP00000434433.1:p.Ser201Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.688T>G
  hgvsp: ENSP00000389264.2:p.Ser230Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.1009T>G
  hgvsp: ENSP00000434442.1:p.Ser337Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.601T>G
  hgvsp: ENSP00000400226.2:p.Ser201Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.320T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-141T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.173T>G
  hgvsp: ENSP00000434022.1:p.Ser59Ala
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser337Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-47189753-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189753
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189753
    reference: chr 11
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.583A>G
  hgvsp: ENSP00000400226.2:p.Thr195Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*366A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.991A>G
  hgvsp: ENSP00000434442.1:p.Thr331Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.184A>G
  hgvsp: ENSP00000327309.6:p.Thr62Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.583A>G
  hgvsp: ENSP00000434433.1:p.Thr195Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*366A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.997A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.670A>G
  hgvsp: ENSP00000389264.2:p.Thr224Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*297A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*366A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.302A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.155A>G
  hgvsp: ENSP00000434022.1:p.Thr53Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-159A>G
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr331Ala
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

11-47189767-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189767
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189767
    reference: chr 11
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.977T>C
  hgvsp: ENSP00000434442.1:p.Val326Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.170T>C
  hgvsp: ENSP00000327309.6:p.Val57Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.983T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.569T>C
  hgvsp: ENSP00000400226.2:p.Val190Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.141T>C
  hgvsp: ENSP00000434022.1:p.Val48Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.569T>C
  hgvsp: ENSP00000434433.1:p.Val190Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.288T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*352T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.656T>C
  hgvsp: ENSP00000389264.2:p.Val219Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*283T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*352T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-173T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*352T>C
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val326Ala
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

11-47189769-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189769
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189769
    reference: chr 11
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.139G>A
  hgvsp: ENST00000527776.1:c.139G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.286G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*350G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.981G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*350G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.168G>A
  hgvsp: ENST00000319543.6:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.654G>A
  hgvsp: ENST00000419701.2:c.654G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-175G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*281G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.567G>A
  hgvsp: ENST00000426335.2:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*350G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.567G>A
  hgvsp: ENST00000527927.1:c.567G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.975G>A
  hgvsp: ENST00000524782.1:c.975G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln325Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-47189770-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189770
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189770
    reference: chr 11
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.167A>G
  hgvsp: ENSP00000327309.6:p.Gln56Arg
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*349A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*280A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.653A>G
  hgvsp: ENSP00000389264.2:p.Gln218Arg
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.980A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.566A>G
  hgvsp: ENSP00000400226.2:p.Gln189Arg
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.138A>G
  hgvsp: ENSP00000434022.1:p.Gln47Arg
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.974A>G
  hgvsp: ENSP00000434442.1:p.Gln325Arg
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*349A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-176A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.566A>G
  hgvsp: ENSP00000434433.1:p.Gln189Arg
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*349A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.285A>G
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln325Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

11-47189776-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189776
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189776
    reference: chr 11
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.974A>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*274A>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*343A>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.161A>C
  hgvsp: ENSP00000327309.6:p.Glu54Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*343A>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-182A>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.560A>C
  hgvsp: ENSP00000434433.1:p.Glu187Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.132A>C
  hgvsp: ENSP00000434022.1:p.Glu45Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.968A>C
  hgvsp: ENSP00000434442.1:p.Glu323Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.279A>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.647A>C
  hgvsp: ENSP00000389264.2:p.Glu216Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.560A>C
  hgvsp: ENSP00000400226.2:p.Glu187Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*343A>C
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu323Ala
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

11-47189781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189781
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189781
    reference: chr 11
allele count: 3
allele frequency: 2.475043313257982e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.274G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.555G>A
  hgvsp: ENST00000527927.1:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.127G>A
  hgvsp: ENST00000527776.1:c.127G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.963G>A
  hgvsp: ENST00000524782.1:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*338G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.156G>A
  hgvsp: ENST00000319543.6:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*338G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.642G>A
  hgvsp: ENST00000419701.2:c.642G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*338G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.969G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-187G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*269G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.555G>A
  hgvsp: ENST00000426335.2:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu321Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

11-47189782-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189782
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189782
    reference: chr 11
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.155T>A
  hgvsp: ENSP00000327309.6:p.Leu52Gln
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.641T>A
  hgvsp: ENSP00000389264.2:p.Leu214Gln
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.126T>A
  hgvsp: ENSP00000434022.1:p.Leu43Gln
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*268T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-188T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.554T>A
  hgvsp: ENSP00000400226.2:p.Leu185Gln
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*337T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.273T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.962T>A
  hgvsp: ENSP00000434442.1:p.Leu321Gln
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*337T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.554T>A
  hgvsp: ENSP00000434433.1:p.Leu185Gln
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.968T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*337T>A
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu321Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

11-47189783-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189783
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189783
    reference: chr 11
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.961C>T
  hgvsp: ENST00000524782.1:c.961C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*267C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.553C>T
  hgvsp: ENST00000527927.1:c.553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*336C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*336C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-189C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.553C>T
  hgvsp: ENST00000426335.2:c.553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.272C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.967C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.125C>T
  hgvsp: ENST00000527776.1:c.125C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.640C>T
  hgvsp: ENST00000419701.2:c.640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.154C>T
  hgvsp: ENST00000319543.6:c.154C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*336C>T
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu321Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

11-47189785-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189785
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189785
    reference: chr 11
allele count: 2
allele frequency: 1.650491846570278e-5
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.152T>C
  hgvsp: ENSP00000327309.6:p.Val51Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.959T>C
  hgvsp: ENSP00000434442.1:p.Val320Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.551T>C
  hgvsp: ENSP00000434433.1:p.Val184Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*334T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.965T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*334T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.123T>C
  hgvsp: ENSP00000434022.1:p.Val42Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.638T>C
  hgvsp: ENSP00000389264.2:p.Val213Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*265T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.551T>C
  hgvsp: ENSP00000400226.2:p.Val184Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*334T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.270T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-191T>C
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val320Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

11-47189788-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189788
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189788
    reference: chr 11
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.149C>T
  hgvsp: ENSP00000327309.6:p.Ser50Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.635C>T
  hgvsp: ENSP00000389264.2:p.Ser212Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*331C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.548C>T
  hgvsp: ENSP00000400226.2:p.Ser183Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*331C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*331C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-194C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.548C>T
  hgvsp: ENSP00000434433.1:p.Ser183Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.956C>T
  hgvsp: ENSP00000434442.1:p.Ser319Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*262C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.120C>T
  hgvsp: ENSP00000434022.1:p.Ser41Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.267C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.962C>T
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser319Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

11-47189799-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189799
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189799
    reference: chr 11
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.138T>C
  hgvsp: ENST00000319543.6:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.951T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.945T>C
  hgvsp: ENST00000524782.1:c.945T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-205T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*251T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.537T>C
  hgvsp: ENST00000527927.1:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.537T>C
  hgvsp: ENST00000426335.2:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*320T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.624T>C
  hgvsp: ENST00000419701.2:c.624T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*320T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.109T>C
  hgvsp: ENST00000527776.1:c.109T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.256T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*320T>C
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37933
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser315Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

11-47189800-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189800
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189800
    reference: chr 11
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*319C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-206C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.623C>T
  hgvsp: ENSP00000389264.2:p.Ser208Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.108C>T
  hgvsp: ENSP00000434022.1:p.Ser37Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*319C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.536C>T
  hgvsp: ENSP00000400226.2:p.Ser179Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.944C>T
  hgvsp: ENSP00000434442.1:p.Ser315Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.255C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.137C>T
  hgvsp: ENSP00000327309.6:p.Ser46Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*319C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*250C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.536C>T
  hgvsp: ENSP00000434433.1:p.Ser179Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.950C>T
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser315Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

11-47189806-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189806
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189806
    reference: chr 11
allele count: 25
allele frequency: 2.064921120013216e-4
allele num: 121070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.534-4G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-212G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.249G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.534-4G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*317-4G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*248-4G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.106-4G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*317-4G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.948-4G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*317-4G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.135-4G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.942-4G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.621-4G>A
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12863
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.942-4G>A
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

11-47189807-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189807
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189807
    reference: chr 11
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.942-5C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*317-5C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*317-5C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.534-5C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*248-5C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-213C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.534-5C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.135-5C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.248C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.106-5C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*317-5C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.621-5C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.948-5C>T
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.942-5C>T
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

11-47189813-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189813
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189813
    reference: chr 11
allele count: 12
allele frequency: 9.91375037176564e-5
allele num: 121044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.242T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*317-11T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.135-11T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*248-11T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.534-11T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-219T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.948-11T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*317-11T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.106-11T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.621-11T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.942-11T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*317-11T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.534-11T>C
  variant of: http://identifiers.org/hgnc/13504
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12844
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-47189824-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189824
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189824
    reference: chr 11
allele count: 1
allele frequency: 8.266239026567692e-6
allele num: 120974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-230C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.231C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*248-22C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*317-22C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.106-22C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.534-22C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.942-22C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.534-22C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*317-22C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.135-22C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.948-22C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*317-22C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.621-22C>G
  variant of: http://identifiers.org/hgnc/13504
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-47189836-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189836
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189836
    reference: chr 11
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*248-34T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000270060
  ensembl transcript: ENST00000524412
  gene symbol: RP11-390K5.6
  hgvsc: ENST00000524412.1:n.570T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.534-34T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.219T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.135-34T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*317-34T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-242T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.621-34T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*317-34T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.106-34T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.534-34T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.942-34T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.948-34T>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*317-34T>G
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

11-47189836-AAGGAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189836
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189831
    reference: chr 11
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.948-39_948-35delATCCT
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*248-39_*248-35delATCCT
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000270060
  ensembl transcript: ENST00000524412
  gene symbol: RP11-390K5.6
  hgvsc: ENST00000524412.1:n.565_569delATCCT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*317-39_*317-35delATCCT
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.534-39_534-35delATCCT
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.135-39_135-35delATCCT
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-247_192-243delATCCT
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.942-39_942-35delATCCT
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.214_218delATCCT
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.621-39_621-35delATCCT
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.106-39_106-35delATCCT
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.534-39_534-35delATCCT
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*317-39_*317-35delATCCT
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*317-39_*317-35delATCCT
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: AAGGAT
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

11-47189840-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189840
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189840
    reference: chr 11
allele count: 1
allele frequency: 8.273214640280627e-6
allele num: 120872
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000270060
  ensembl transcript: ENST00000524412
  gene symbol: RP11-390K5.6
  hgvsc: ENST00000524412.1:n.566T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*317-38T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.942-38T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-246T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*317-38T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.135-38T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.948-38T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.621-38T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.534-38T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.534-38T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.215T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.106-38T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*317-38T>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*248-38T>A
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12089
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

11-47189842-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189842
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189842
    reference: chr 11
allele count: 2
allele frequency: 1.655272871732905e-5
allele num: 120826
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000270060
  ensembl transcript: ENST00000524412
  gene symbol: RP11-390K5.6
  hgvsc: ENST00000524412.1:n.564T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*317-40T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.213T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.621-40T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-248T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*317-40T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*317-40T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.942-40T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*248-40T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.948-40T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.534-40T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.135-40T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.534-40T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.106-40T>C
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11788
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

11-47189845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47189845
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47189845
    reference: chr 11
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.621-43G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.135-43G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*317-43G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*317-43G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000525635
  gene symbol: ARFGAP2
  hgvsc: ENST00000525635.1:n.210G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.534-43G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.948-43G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.534-43G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.106-43G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*248-43G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.942-43G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*317-43G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000270060
  ensembl transcript: ENST00000524412
  gene symbol: RP11-390K5.6
  hgvsc: ENST00000524412.1:n.561G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-251G>A
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

11-47192941-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47192941
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47192941
    reference: chr 11
allele count: 1
allele frequency: 8.33152816889674e-6
allele num: 120026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*316+36G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.134+36G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.947+36G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.105+63G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*316+36G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.533+36G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*316+36G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.533+36G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3347G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*247+36G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.941+36G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.620+36G>A
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

11-47192942-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47192942
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47192942
    reference: chr 11
allele count: 6
allele frequency: 4.993009786299181e-5
allele num: 120168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.105+62C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*316+35C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*316+35C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*316+35C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.620+35C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*247+35C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.134+35C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.533+35C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.947+35C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.533+35C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.941+35C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3348C>T
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28766
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

11-47192942-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47192942
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47192942
    reference: chr 11
allele count: 1
allele frequency: 8.321682977165302e-6
allele num: 120168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.533+35C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.947+35C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.941+35C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.105+62C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3348C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*316+35C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.620+35C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.134+35C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*316+35C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*316+35C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*247+35C>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.533+35C>G
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28766
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/11-47192954-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47192954
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47192954
    reference: chr 11
allele count: 2
allele frequency: 1.660026560424967e-5
allele num: 120480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*316+23G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3360G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.105+50G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.533+23G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.941+23G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*316+23G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.620+23G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.134+23G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.947+23G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*316+23G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.533+23G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*247+23G>T
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28816
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

11-47192956-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47192956
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47192956
    reference: chr 11
allele count: 2
allele frequency: 1.658182300562124e-5
allele num: 120614
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*247+21T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.134+21T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*316+21T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*316+21T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.105+48T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3362T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.947+21T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.533+21T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.620+21T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.533+21T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.941+21T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*316+21T>C
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28817
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 2.75e1
  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: European (Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/11-47192957-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47192957
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47192957
    reference: chr 11
allele count: 1
allele frequency: 8.291873963515755e-6
allele num: 120600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.134+20G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.533+20G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3363G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*316+20G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*247+20G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.941+20G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*316+20G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.105+47G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.533+20G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.620+20G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*316+20G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.947+20G>T
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28818
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

11-47192961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47192961
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47192961
    reference: chr 11
allele count: 14
allele frequency: 1.159189891864143e-4
allele num: 120774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.134+16G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.947+16G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.533+16G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*247+16G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.105+43G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.941+16G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*316+16G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*316+16G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.620+16G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.533+16G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3367G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*316+16G>A
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28823
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

11-47192962-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47192962
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47192962
    reference: chr 11
allele count: 11
allele frequency: 9.100686688177381e-5
allele num: 120870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*316+15C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.533+15C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.134+15C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*316+15C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.533+15C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.620+15C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.105+42C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.947+15C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*247+15C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*316+15C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.941+15C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3368C>T
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28823
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-47192967-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47192967
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47192967
    reference: chr 11
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.134+10A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3373A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.941+10A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*316+10A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.620+10A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.947+10A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.533+10A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*316+10A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*316+10A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.105+37A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*247+10A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.533+10A>G
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28822
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

11-47192969-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47192969
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47192969
    reference: chr 11
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.941+8T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.533+8T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.105+35T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.134+8T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.533+8T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*316+8T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*316+8T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.620+8T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*247+8T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*316+8T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3375T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.947+8T>C
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28822
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.941+8T>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

11-47192971-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47192971
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47192971
    reference: chr 11
allele count: 3
allele frequency: 2.477496077297878e-5
allele num: 121090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.134+6G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.533+6G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*247+6G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.533+6G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.620+6G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.941+6G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.947+6G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*316+6G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*316+6G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3377G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*316+6G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.105+33G>C
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.941+6G>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

11-47192980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47192980
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47192980
    reference: chr 11
allele count: 2
allele frequency: 1.649430121892886e-5
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.530G>A
  hgvsp: ENSP00000400226.2:p.Arg177Gln
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*313G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3386G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.944G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.617G>A
  hgvsp: ENSP00000389264.2:p.Arg206Gln
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*313G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.938G>A
  hgvsp: ENSP00000434442.1:p.Arg313Gln
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*313G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.980G>A
  hgvsp: ENSP00000431939.1:p.Arg327Gln
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.530G>A
  hgvsp: ENSP00000434433.1:p.Arg177Gln
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.131G>A
  hgvsp: ENSP00000327309.6:p.Arg44Gln
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.105+24G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*244G>A
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg313Gln
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

11-47192983-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47192983
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47192983
    reference: chr 11
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*241C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.614C>T
  hgvsp: ENSP00000389264.2:p.Ser205Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.941C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3389C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*310C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.128C>T
  hgvsp: ENSP00000327309.6:p.Ser43Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.935C>T
  hgvsp: ENSP00000434442.1:p.Ser312Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.105+21C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.977C>T
  hgvsp: ENSP00000431939.1:p.Ser326Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.527C>T
  hgvsp: ENSP00000400226.2:p.Ser176Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.527C>T
  hgvsp: ENSP00000434433.1:p.Ser176Phe
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*310C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*310C>T
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser312Phe
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

11-47192988-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47192988
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47192988
    reference: chr 11
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3394G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.123G>A
  hgvsp: ENST00000319543.6:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.936G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*236G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.522G>A
  hgvsp: ENST00000426335.2:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*305G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.972G>A
  hgvsp: ENST00000525398.1:c.972G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*305G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.105+16G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.522G>A
  hgvsp: ENST00000527927.1:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*305G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.609G>A
  hgvsp: ENST00000419701.2:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.930G>A
  hgvsp: ENST00000524782.1:c.930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28819
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu310Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

11-47192996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47192996
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47192996
    reference: chr 11
allele count: 4
allele frequency: 3.296250515039143e-5
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*228A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*297A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3402A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.922A>G
  hgvsp: ENSP00000434442.1:p.Met308Val
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*297A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.115A>G
  hgvsp: ENSP00000327309.6:p.Met39Val
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*297A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.514A>G
  hgvsp: ENSP00000434433.1:p.Met172Val
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.964A>G
  hgvsp: ENSP00000431939.1:p.Met322Val
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.601A>G
  hgvsp: ENSP00000389264.2:p.Met201Val
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.514A>G
  hgvsp: ENSP00000400226.2:p.Met172Val
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.928A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.105+8A>G
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met308Val
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: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

11-47192996-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47192996
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47192995
    reference: chr 11
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.105+7delC
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3403delC
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.927delC
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.114delC
  hgvsp: ENSP00000327309.6:p.Met39TrpfsTer19
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.513delC
  hgvsp: ENSP00000434433.1:p.Met172TrpfsTer19
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.963delC
  hgvsp: ENSP00000431939.1:p.Met322TrpfsTer?
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.600delC
  hgvsp: ENSP00000389264.2:p.Met201TrpfsTer19
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.513delC
  hgvsp: ENSP00000400226.2:p.Met172TrpfsTer19
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*296delC
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*296delC
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.921delC
  hgvsp: ENSP00000434442.1:p.Met308TrpfsTer19
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*227delC
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*296delC
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28820
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met308TrpfsTer19
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: TG
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-47192998-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47192998
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47192998
    reference: chr 11
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.926G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*295G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*295G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.105+6G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3404G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.920G>A
  hgvsp: ENSP00000434442.1:p.Gly307Asp
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*295G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.962G>A
  hgvsp: ENSP00000431939.1:p.Gly321Asp
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.599G>A
  hgvsp: ENSP00000389264.2:p.Gly200Asp
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*226G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.113G>A
  hgvsp: ENSP00000327309.6:p.Gly38Asp
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.512G>A
  hgvsp: ENSP00000434433.1:p.Gly171Asp
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.512G>A
  hgvsp: ENSP00000400226.2:p.Gly171Asp
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly307Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

11-47193011-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47193011
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47193011
    reference: chr 11
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*282G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.499G>C
  hgvsp: ENSP00000434433.1:p.Ala167Pro
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.586G>C
  hgvsp: ENSP00000389264.2:p.Ala196Pro
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.913G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.499G>C
  hgvsp: ENSP00000400226.2:p.Ala167Pro
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.907G>C
  hgvsp: ENSP00000434442.1:p.Ala303Pro
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.98G>C
  hgvsp: ENSP00000434022.1:p.Ala34Pro
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*282G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.949G>C
  hgvsp: ENSP00000431939.1:p.Ala317Pro
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*282G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*213G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3417G>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.100G>C
  hgvsp: ENSP00000327309.6:p.Ala34Pro
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28821
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala303Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

11-47193013-TGCTCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47193013
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47193007
    reference: chr 11
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.899_904delGAGAGC
  hgvsp: ENSP00000434442.1:p.Arg300_Glu301del
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.90_95delGAGAGC
  hgvsp: ENSP00000434022.1:p.Arg31_Glu32del
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.941_946delGAGAGC
  hgvsp: ENSP00000431939.1:p.Arg314_Glu315del
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.92_97delGAGAGC
  hgvsp: ENSP00000327309.6:p.Arg31_Glu32del
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.491_496delGAGAGC
  hgvsp: ENSP00000400226.2:p.Arg164_Glu165del
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*205_*210delGAGAGC
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.578_583delGAGAGC
  hgvsp: ENSP00000389264.2:p.Arg193_Glu194del
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*274_*279delGAGAGC
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*274_*279delGAGAGC
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.905_910delGAGAGC
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.491_496delGAGAGC
  hgvsp: ENSP00000434433.1:p.Arg164_Glu165del
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*274_*279delGAGAGC
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28821
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg300_Glu301del
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: TGCTCTC
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/11-47193021-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47193021
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47193021
    reference: chr 11
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*272G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*272G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.88G>T
  hgvsp: ENSP00000434022.1:p.Lys30Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.489G>T
  hgvsp: ENSP00000434433.1:p.Lys163Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.897G>T
  hgvsp: ENSP00000434442.1:p.Lys299Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.90G>T
  hgvsp: ENSP00000327309.6:p.Lys30Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.903G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.489G>T
  hgvsp: ENSP00000400226.2:p.Lys163Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.576G>T
  hgvsp: ENSP00000389264.2:p.Lys192Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*203G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.939G>T
  hgvsp: ENSP00000431939.1:p.Lys313Asn
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3427G>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*272G>T
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28821
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys299Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-47193023-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47193023
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47193023
    reference: chr 11
allele count: 4
allele frequency: 3.29489291598023e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*270A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.86A>G
  hgvsp: ENSP00000434022.1:p.Lys30Glu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.895A>G
  hgvsp: ENSP00000434442.1:p.Lys299Glu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*270A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.487A>G
  hgvsp: ENSP00000434433.1:p.Lys163Glu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.88A>G
  hgvsp: ENSP00000327309.6:p.Lys30Glu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*270A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*201A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.574A>G
  hgvsp: ENSP00000389264.2:p.Lys192Glu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.487A>G
  hgvsp: ENSP00000400226.2:p.Lys163Glu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3429A>G
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.937A>G
  hgvsp: ENSP00000431939.1:p.Lys313Glu
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.901A>G
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys299Glu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

11-47193025-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47193025
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47193025
    reference: chr 11
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.84A>C
  hgvsp: ENSP00000434022.1:p.Lys29Thr
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.572A>C
  hgvsp: ENSP00000389264.2:p.Lys191Thr
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*268A>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.935A>C
  hgvsp: ENSP00000431939.1:p.Lys312Thr
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3431A>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*199A>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.485A>C
  hgvsp: ENSP00000400226.2:p.Lys162Thr
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.893A>C
  hgvsp: ENSP00000434442.1:p.Lys298Thr
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.86A>C
  hgvsp: ENSP00000327309.6:p.Lys29Thr
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.899A>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*268A>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.485A>C
  hgvsp: ENSP00000434433.1:p.Lys162Thr
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*268A>C
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys298Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

11-47193044-GCTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47193044
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47193041
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.64_66delAAG
  hgvsp: ENSP00000327309.6:p.Lys22del
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*177_*179delAAG
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.550_552delAAG
  hgvsp: ENSP00000389264.2:p.Lys184del
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.871_873delAAG
  hgvsp: ENSP00000434442.1:p.Lys291del
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*246_*248delAAG
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.463_465delAAG
  hgvsp: ENSP00000400226.2:p.Lys155del
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*246_*248delAAG
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.463_465delAAG
  hgvsp: ENSP00000434433.1:p.Lys155del
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.913_915delAAG
  hgvsp: ENSP00000431939.1:p.Lys305del
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.62_64delAAG
  hgvsp: ENSP00000434022.1:p.Lys22del
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3453_192-3451delAAG
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.877_879delAAG
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*246_*248delAAG
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28825
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys291del
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: GCTT
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

11-47193060-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47193060
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47193060
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*164G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3466G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.864G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*233G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*233G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.858G>A
  hgvsp: ENST00000524782.1:c.858G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.450G>A
  hgvsp: ENST00000527927.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.51G>A
  hgvsp: ENST00000319543.6:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.537G>A
  hgvsp: ENST00000419701.2:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.900G>A
  hgvsp: ENST00000525398.1:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.49G>A
  hgvsp: ENST00000527776.1:c.49G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*233G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.450G>A
  hgvsp: ENST00000426335.2:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28826
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys286Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

11-47193061-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47193061
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47193061
    reference: chr 11
allele count: 13
allele frequency: 1.070769636267791e-4
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*232A>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.48A>T
  hgvsp: ENSP00000434022.1:p.Lys17Met
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.863A>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.899A>T
  hgvsp: ENSP00000431939.1:p.Lys300Met
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*163A>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*232A>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3467A>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.449A>T
  hgvsp: ENSP00000434433.1:p.Lys150Met
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.50A>T
  hgvsp: ENSP00000327309.6:p.Lys17Met
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.449A>T
  hgvsp: ENSP00000400226.2:p.Lys150Met
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.536A>T
  hgvsp: ENSP00000389264.2:p.Lys179Met
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.857A>T
  hgvsp: ENSP00000434442.1:p.Lys286Met
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*232A>T
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28831
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys286Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

11-47193065-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47193065
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47193065
    reference: chr 11
allele count: 6
allele frequency: 4.942095118857387e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.532C>T
  hgvsp: ENSP00000389264.2:p.Arg178Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.44C>T
  hgvsp: ENSP00000434022.1:p.Arg16Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.445C>T
  hgvsp: ENSP00000400226.2:p.Arg149Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.895C>T
  hgvsp: ENSP00000431939.1:p.Arg299Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.445C>T
  hgvsp: ENSP00000434433.1:p.Arg149Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*159C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.46C>T
  hgvsp: ENSP00000327309.6:p.Arg16Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.853C>T
  hgvsp: ENSP00000434442.1:p.Arg285Cys
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*228C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*228C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.859C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3471C>T
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*228C>T
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg285Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

11-47193066-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47193066
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47193066
    reference: chr 11
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.852T>C
  hgvsp: ENST00000524782.1:c.852T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.894T>C
  hgvsp: ENST00000525398.1:c.894T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*227T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*158T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.45T>C
  hgvsp: ENST00000319543.6:c.45T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.43T>C
  hgvsp: ENST00000527776.1:c.43T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.444T>C
  hgvsp: ENST00000527927.1:c.444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.444T>C
  hgvsp: ENST00000426335.2:c.444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*227T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*227T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.531T>C
  hgvsp: ENST00000419701.2:c.531T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.858T>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3472T>C
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28832
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp284Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

11-47193079-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47193079
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47193079
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.32A>C
  hgvsp: ENSP00000327309.6:p.Glu11Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.881A>C
  hgvsp: ENSP00000431939.1:p.Glu294Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.431A>C
  hgvsp: ENSP00000400226.2:p.Glu144Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.839A>C
  hgvsp: ENSP00000434442.1:p.Glu280Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*145A>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000526948
  gene symbol: ARFGAP2
  hgvsc: ENST00000526948.1:n.553A>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.30A>C
  hgvsp: ENSP00000434022.1:p.Glu11Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.431A>C
  hgvsp: ENSP00000434433.1:p.Glu144Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.845A>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.518A>C
  hgvsp: ENSP00000389264.2:p.Glu173Ala
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*214A>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*214A>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3485A>C
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*214A>C
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu280Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-47193094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47193094
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47193094
    reference: chr 11
allele count: 5
allele frequency: 4.119091163725636e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000400226
  ensembl transcript: ENST00000426335
  gene symbol: ARFGAP2
  hgvsc: ENST00000426335.2:c.416G>A
  hgvsp: ENSP00000400226.2:p.Arg139His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000389264
  ensembl transcript: ENST00000419701
  gene symbol: ARFGAP2
  hgvsc: ENST00000419701.2:c.503G>A
  hgvsp: ENSP00000389264.2:p.Arg168His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000433210
  ensembl transcript: ENST00000533243
  gene symbol: ARFGAP2
  hgvsc: ENST00000533243.1:c.*130G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437305
  ensembl transcript: ENST00000526342
  gene symbol: ARFGAP2
  hgvsc: ENST00000526342.1:c.192-3500G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434022
  ensembl transcript: ENST00000527776
  gene symbol: ARFGAP2
  hgvsc: ENST00000527776.1:c.15G>A
  hgvsp: ENSP00000434022.1:p.Arg6His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000437194
  ensembl transcript: ENST00000532478
  gene symbol: ARFGAP2
  hgvsc: ENST00000532478.1:c.*199G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434433
  ensembl transcript: ENST00000527927
  gene symbol: ARFGAP2
  hgvsc: ENST00000527927.1:c.416G>A
  hgvsp: ENSP00000434433.1:p.Arg139His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434442
  ensembl transcript: ENST00000524782
  gene symbol: ARFGAP2
  hgvsc: ENST00000524782.1:c.824G>A
  hgvsp: ENSP00000434442.1:p.Arg275His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000327309
  ensembl transcript: ENST00000319543
  gene symbol: ARFGAP2
  hgvsc: ENST00000319543.6:c.17G>A
  hgvsp: ENSP00000327309.6:p.Arg6His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000431939
  ensembl transcript: ENST00000525398
  gene symbol: ARFGAP2
  hgvsc: ENST00000525398.1:c.866G>A
  hgvsp: ENSP00000431939.1:p.Arg289His
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000434487
  ensembl transcript: ENST00000529455
  gene symbol: ARFGAP2
  hgvsc: ENST00000529455.1:c.*199G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000395449
  gene symbol: ARFGAP2
  hgvsc: ENST00000395449.3:n.830G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149182
  ensembl protein: ENSP00000432978
  ensembl transcript: ENST00000532438
  gene symbol: ARFGAP2
  hgvsc: ENST00000532438.1:c.*199G>A
  variant of: http://identifiers.org/hgnc/13504
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149182
  ensembl transcript: ENST00000526948
  gene symbol: ARFGAP2
  hgvsc: ENST00000526948.1:n.538G>A
  variant of: http://identifiers.org/hgnc/13504
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28833
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg275His
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C

GenotypeDepth
all individuals: 122
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5706
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1559
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2664
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43978
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7305
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.164e1

MQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

DP
type: SiteQuality
SIO_000300: 1.520095e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

FS
type: SiteQuality
SIO_000300: 5.933e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.945e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

GenotypeDepth
all individuals: 56
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2561
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43984
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7306
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 1559
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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: 11570
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.519791e6

MQRankSum
type: SiteQuality
SIO_000300: 8.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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East Asian
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FS
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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DP
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ClippingRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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QD
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VQSLOD
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 16508
num of homozygotes: 0

Other
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Latino
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allele num: 11568
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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BaseQRankSum
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MQRankSum
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MQ
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DP
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VQSLOD
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 2

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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Other
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East Asian
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allele frequency: 2.080443828016643e-3
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European (Non-Finnish)
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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African
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East Asian
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Other
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QD
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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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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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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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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MQRankSum
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QD
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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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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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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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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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South Asian
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African
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East Asian
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DP
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QD
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MQ
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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East Asian
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African
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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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MQ
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 7

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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allele count: 2
allele frequency: 2.99805126667666e-5
allele num: 66710
num of homozygotes: 0

East Asian
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allele count: 52
allele frequency: 6.010171058714748e-3
allele num: 8652
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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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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Other
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DP
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VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.98e1

BaseQRankSum
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SIO_000300: 1.02e0

GenotypeDepth
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variant carriers: 9

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

Latino
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allele frequency: 1.123984091302092e-3
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African
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allele num: 10388
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European (Non-Finnish)
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allele frequency: 2.99805126667666e-5
allele num: 66710
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Other
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South Asian
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East Asian
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BaseQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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European (Non-Finnish)
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European (Finnish)
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VQSLOD
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MQ
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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MQRankSum
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DP
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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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European (Non-Finnish)
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Other
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Latino
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African
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East Asian
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European (Finnish)
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South Asian
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MQ
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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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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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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ReadPosRankSum
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FS
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DP
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MQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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FS
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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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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African
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allele num: 10372
num of homozygotes: 0

Latino
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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Other
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FS
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DP
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MQ
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Finnish)
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African
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South Asian
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VQSLOD
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MQ
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DP
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QD
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FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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DP
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InbreedingCoeff
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European (Non-Finnish)
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East Asian
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African
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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QD
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DP
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FS
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MQ
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VQSLOD
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MQRankSum
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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VQSLOD
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MQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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East Asian
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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VQSLOD
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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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Other
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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African
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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FS
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QD
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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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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Other
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FS
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ClippingRankSum
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MQ
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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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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allele num: 16478
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East Asian
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European (Non-Finnish)
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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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DP
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MQRankSum
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QD
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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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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Other
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Latino
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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QD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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VQSLOD
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MQ
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ClippingRankSum
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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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East Asian
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European (Non-Finnish)
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South Asian
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DP
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FS
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QD
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ClippingRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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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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European (Finnish)
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African
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East Asian
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South Asian
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European (Non-Finnish)
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MQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQ
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FS
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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bin: 1.25e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504755025881786e-5
allele num: 66456
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.124e1

BaseQRankSum
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SIO_000300: 7.42e-1

InbreedingCoeff
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SIO_000300: 3.0e-4

ReadPosRankSum
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DP
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SIO_000300: 1.489425e6

VQSLOD
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SIO_000300: -1.057e0

MQRankSum
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SIO_000300: -1.77e-1

ClippingRankSum
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SIO_000300: 2.2e0

FS
type: SiteQuality
SIO_000300: 2.12e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

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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bin: 7.5e0
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
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SIO_000300: 3.23e0

ClippingRankSum
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SIO_000300: 2.41e0

VQSLOD
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SIO_000300: 1.53e0

ReadPosRankSum
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SIO_000300: 5.639999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.727e0

MQRankSum
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SIO_000300: 2.05e-1

QD
type: SiteQuality
SIO_000300: 1.427e1

DP
type: SiteQuality
SIO_000300: 1.485117e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16416
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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
allele num: 896
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.051e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

BaseQRankSum
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SIO_000300: 8.04e-1

InbreedingCoeff
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SIO_000300: 4.5e-3

ClippingRankSum
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SIO_000300: 8.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.384e0

DP
type: SiteQuality
SIO_000300: 1.480763e6

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 290
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66338
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
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SIO_000300: -3.564e0

InbreedingCoeff
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SIO_000300: -3.0e-4

MQRankSum
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SIO_000300: 1.8e0

FS
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SIO_000300: 1.565e1

DP
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SIO_000300: 5.490217e6

QD
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SIO_000300: 1.294e1

ReadPosRankSum
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SIO_000300: -1.411e0

MQ
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SIO_000300: 5.937e1

BaseQRankSum
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SIO_000300: -7.932e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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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: 30
bin: 1.25e1
variant carriers: 0

Latino
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allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.519161243673174e-5
allele num: 66384
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.388143605468251e-5
allele num: 15654
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ClippingRankSum
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SIO_000300: -2.95e-1

MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.987e1

QD
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GenotypeDepth
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bin: 7.25e1
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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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506387081224391e-5
allele num: 66384
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15654
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

QD
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FS
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InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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MQ
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009147809340395e-5
allele num: 66464
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.196e0

MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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DP
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SIO_000300: 5.5094e6

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

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

European (Non-Finnish)
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allele frequency: 3.007699711260828e-5
allele num: 66496
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

BaseQRankSum
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.971e1

DP
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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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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

ReadPosRankSum
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MQ
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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QD
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ClippingRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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East Asian
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allele frequency: 1.502542764678687e-3
allele num: 8652
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Other
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BaseQRankSum
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SIO_000300: -1.379e0

DP
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VQSLOD
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ReadPosRankSum
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MQ
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FS
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
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allele frequency: 7.692307692307692e-4
allele num: 10400
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Other
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.507211538461539e-5
allele num: 66560
num of homozygotes: 0

European (Finnish)
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allele count: 0
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num of homozygotes: 0

MQRankSum
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SIO_000300: -6.6e-2

QD
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FS
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MQ
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DP
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: 6.56e-1

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

South Asian
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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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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: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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DP
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MQ
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66600
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African
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East Asian
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South Asian
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Latino
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Other
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ClippingRankSum
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VQSLOD
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FS
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DP
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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MQ
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 10404
num of homozygotes: 0

European (Finnish)
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Other
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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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MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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FS
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BaseQRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
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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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000660145231951e-5
allele num: 66652
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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

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

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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 frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

East Asian
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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MQRankSum
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DP
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QD
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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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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

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

Latino
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South Asian
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African
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East Asian
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European (Non-Finnish)
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Other
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ReadPosRankSum
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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FS
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QD
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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African
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Other
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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DP
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

Other
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allele num: 908
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
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allele num: 66728
num of homozygotes: 0

South Asian
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East Asian
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MQ
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BaseQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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FS
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MQRankSum
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QD
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66730
num of homozygotes: 0

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

European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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Other
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South Asian
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BaseQRankSum
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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FS
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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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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bin: 9.75e1
variant carriers: 13

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.153180857197771e-3
allele num: 10406
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.53399e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.237e0

QD
type: SiteQuality
SIO_000300: 1.46e1

VQSLOD
type: SiteQuality
SIO_000300: 5.56e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.492208103572285e-5
allele num: 66736
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
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: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

FS
type: SiteQuality
SIO_000300: 1.103e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

DP
type: SiteQuality
SIO_000300: 5.53399e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.743e0

BaseQRankSum
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SIO_000300: 7.69e0

DP
type: SiteQuality
SIO_000300: 5.534157e6

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.913e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.55e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e-1

QD
type: SiteQuality
SIO_000300: 1.594e1

GenotypeDepth
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 416
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.095e1

FS
type: SiteQuality
SIO_000300: 3.739e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 7.69e-1

InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.024e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 5.534168e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

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
all individuals: 18
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variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997601918465228e-5
allele num: 66720
num of homozygotes: 0

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