3-49758684-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758684
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758684
    reference: chr 3
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1786A>G
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4286T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*501A>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.1227T>C
  hgvsp: ENST00000433785.1:c.1227T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.3891T>C
  hgvsp: ENST00000327697.6:c.3891T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5606T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*1965T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*501A>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.468T>C
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser1297Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

3-49758685-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758685
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758685
    reference: chr 3
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*500C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.1228G>A
  hgvsp: ENSP00000416156.1:p.Val410Ile
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.3892G>A
  hgvsp: ENSP00000328287.6:p.Val1298Ile
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*500C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5607G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4287G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1787C>T
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.469G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*1966G>A
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val1298Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-49758697-G-GAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758697
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758700
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: GAGA
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*485_*487dupTCT
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4302_4304dupAAG
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*1981_*1983dupAAG
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5622_5624dupAAG
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*485_*487dupTCT
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.1243_1245dupAAG
  hgvsp: ENSP00000416156.1:p.Lys415dup
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.3907_3909dupAAG
  hgvsp: ENSP00000328287.6:p.Lys1303dup
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.484_486dupAAG
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1802_-1800dupTCT
  variant of: http://identifiers.org/hgnc/24075
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys1303dup
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

3-49758699-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758699
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758699
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5621G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*486C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4301G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.3906G>A
  hgvsp: ENST00000327697.6:c.3906G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.483G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.1242G>A
  hgvsp: ENST00000433785.1:c.1242G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1801C>T
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*1980G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*486C>T
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu1302Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

3-49758706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758706
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758706
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.1249G>A
  hgvsp: ENSP00000416156.1:p.Ala417Thr
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*1987G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5628G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.3913G>A
  hgvsp: ENSP00000328287.6:p.Ala1305Thr
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4308G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1808C>T
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*479C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.490G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*479C>T
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18304
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1305Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-49758706-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758706
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758706
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4308G>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*479C>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.3913G>C
  hgvsp: ENSP00000328287.6:p.Ala1305Pro
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.490G>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1808C>G
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5628G>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.1249G>C
  hgvsp: ENSP00000416156.1:p.Ala417Pro
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*479C>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*1987G>C
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala1305Pro
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

3-49758713-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758713
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758713
    reference: chr 3
allele count: 6
allele frequency: 4.942095118857387e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*1994C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.3920C>G
  hgvsp: ENSP00000328287.6:p.Thr1307Arg
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1815G>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*472G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4315C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.497C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*472G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.1256C>G
  hgvsp: ENSP00000416156.1:p.Thr419Arg
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5635C>G
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr1307Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

3-49758714-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758714
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758714
    reference: chr 3
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5636G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1816C>T
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.3921G>A
  hgvsp: ENST00000327697.6:c.3921G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*1995G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*471C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.498G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.1257G>A
  hgvsp: ENST00000433785.1:c.1257G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4316G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*471C>T
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18302
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr1307Thr
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-49758718-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758718
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758718
    reference: chr 3
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.3925A>C
  hgvsp: ENSP00000328287.6:p.Thr1309Pro
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5640A>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1820T>G
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*467T>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*467T>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4320A>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*1999A>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.502A>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.1261A>C
  hgvsp: ENSP00000416156.1:p.Thr421Pro
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6330
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1309Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-49758734-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758734
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758734
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.3941C>T
  hgvsp: ENSP00000328287.6:p.Ala1314Val
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*451G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.1277C>T
  hgvsp: ENSP00000416156.1:p.Ala426Val
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4336C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*451G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5656C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.518C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2015C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1836G>A
  variant of: http://identifiers.org/hgnc/24075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18304
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala1314Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

3-49758739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758739
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758739
    reference: chr 3
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1841G>A
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*446G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*446G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*1C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4341C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5661C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*1C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2020C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.523C>T
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

3-49758741-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758741
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758741
    reference: chr 3
allele count: 5
allele frequency: 4.118548294097296e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.525C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1843G>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*3C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4343C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*3C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*444G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2022C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5663C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*444G>C
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-49758749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758749
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758749
    reference: chr 3
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*11C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*436G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2030C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1851G>A
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*436G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*11C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.533C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4351C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5671C>T
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18312
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-49758751-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758751
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758751
    reference: chr 3
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*434C>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*13G>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4353G>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2032G>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*434C>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.535G>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1853C>A
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*13G>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5673G>T
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6324
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-49758758-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758758
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758758
    reference: chr 3
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1860G>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*427G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.542C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*20C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2039C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*20C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4360C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*427G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5680C>G
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-49758764-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758764
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758764
    reference: chr 3
allele count: 32524
allele frequency: 2.680799854931505e-1
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2045A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1866T>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4366A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*26A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*421T>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5686A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*26A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*421T>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.548A>G
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16528
  bin: 2.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 375
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23526
  bin: 9.75e1
  variant carriers: 23494
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 474
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 211
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 449
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 523
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 412
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 2.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 3.75e1
  variant carriers: 259
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 335
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 3.25e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 537
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24309
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 4547
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

3-49758771-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758771
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758771
    reference: chr 3
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1873G>A
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*33C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5693C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*414G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*33C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*414G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2052C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4373C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.555C>T
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-49758772-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758772
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758772
    reference: chr 3
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*34C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*413G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.556C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*413G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1874G>A
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2053C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4374C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5694C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*34C>T
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

3-49758772-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758772
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758771
    reference: chr 3
allele count: 8
allele frequency: 6.602621240632531e-5
allele num: 121164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*37delT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4377delT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2056delT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5697delT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1875delA
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*412delA
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*412delA
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.559delT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*37delT
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: CT
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-49758779-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758779
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758779
    reference: chr 3
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2060C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.563C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*406G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*41C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5701C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1881G>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4381C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*41C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*406G>C
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

3-49758780-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758780
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758780
    reference: chr 3
allele count: 204
allele frequency: 1.684975633930784e-3
allele num: 121070
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1882G>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*42C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*405G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*405G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*42C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4382C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5702C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.564C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2061C>G
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29334
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12987
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11360
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 162
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 2
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

3-49758787-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758787
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758787
    reference: chr 3
allele count: 5
allele frequency: 4.133939644481191e-5
allele num: 120950
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*49C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5709C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.571C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2068C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*398G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*49C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*398G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1889G>A
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4389C>T
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13012
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

3-49758794-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758794
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758794
    reference: chr 3
allele count: 2
allele frequency: 1.655300271469245e-5
allele num: 120824
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*56G>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1896C>G
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2075G>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*391C>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4396G>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*391C>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5716G>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.578G>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*56G>C
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

3-49758804-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758804
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758804
    reference: chr 3
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4406A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*66A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*66A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*381T>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2085A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1906T>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5726A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*381T>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.588A>G
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD

3-49758810-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758810
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758810
    reference: chr 3
allele count: 2
allele frequency: 1.661322745169704e-5
allele num: 120386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*375A>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5732T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4412T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2091T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*72T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1912A>G
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*375A>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.594T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*72T>C
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

3-49758813-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758813
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758815
    reference: chr 3
allele count: 1
allele frequency: 8.324176738920521e-6
allele num: 120132
alternate allele: CTT
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*370_*371dupAA
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*77_*78dupTT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5737_5738dupTT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*370_*371dupAA
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4417_4418dupTT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*77_*78dupTT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1917_-1916dupAA
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.599_600dupTT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2096_*2097dupTT
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8551
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-49758818-C-CCCTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758818
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758822
    reference: chr 3
allele count: 1
allele frequency: 8.34125752798492e-6
allele num: 119886
alternate allele: CCCTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.604_607dupCTTC
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4422_4425dupCTTC
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*363_*366dupAAGG
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1924_-1921dupAAGG
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*363_*366dupAAGG
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2101_*2104dupCTTC
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*82_*85dupCTTC
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*82_*85dupCTTC
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5742_5745dupCTTC
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28886
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42665
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

3-49758820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758820
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758820
    reference: chr 3
allele count: 81
allele frequency: 6.765447772413678e-4
allele num: 119726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5742C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.604C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*365G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1922G>A
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*82C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2101C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*82C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*365G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4422C>T
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28778
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12594
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11169
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 9.75e1
  variant carriers: 81
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

3-49758822-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758822
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758819
    reference: chr 3
allele count: 4
allele frequency: 3.347224314237419e-5
allele num: 119502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*360_*362delGAG
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1927_-1925delGAG
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5747_5749delCCT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*87_*89delCCT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2106_*2108delCCT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*87_*89delCCT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*360_*362delGAG
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4427_4429delCCT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.609_611delCCT
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 12504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: TCTC
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-49758823-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758823
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758823
    reference: chr 3
allele count: 1
allele frequency: 8.374507997655138e-6
allele num: 119410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2104C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5745C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*362G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*85C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*85C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1925G>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*362G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.607C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4425C>G
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

3-49758837-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758837
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758837
    reference: chr 3
allele count: 3
allele frequency: 2.555018055460925e-5
allele num: 117416
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*348T>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*99A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1939T>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*99A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*348T>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5759A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4439A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.621A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2118A>G
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11512
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

3-49758847-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758847
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758847
    reference: chr 3
allele count: 1
allele frequency: 8.715660298424209e-6
allele num: 114736
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*338G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.631C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2128C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*109C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1949G>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5769C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*109C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4449C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*338G>C
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

3-49758850-A-ACCTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758850
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758854
    reference: chr 3
allele count: 1
allele frequency: 8.855827134254339e-6
allele num: 112920
alternate allele: ACCTC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*114_*117dupCTCC
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*331_*334dupGAGG
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*331_*334dupGAGG
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*114_*117dupCTCC
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2133_*2136dupCTCC
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4454_4457dupCTCC
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1956_-1953dupGAGG
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.636_639dupCTCC
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5774_5777dupCTCC
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

3-49758850-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758850
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758850
    reference: chr 3
allele count: 1
allele frequency: 8.855827134254339e-6
allele num: 112920
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.634A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1952T>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*112A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2131A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*335T>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5772A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*335T>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*112A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4452A>G
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9644
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-49758851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758851
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758851
    reference: chr 3
allele count: 1
allele frequency: 8.89901398924999e-6
allele num: 112372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*113C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4453C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*113C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.635C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2132C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1953G>A
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*334G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*334G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5773C>T
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9416
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

3-49758856-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758856
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758856
    reference: chr 3
allele count: 23
allele frequency: 2.076636931633501e-4
allele num: 110756
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*118T>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*329A>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5778T>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*329A>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*118T>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2137T>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4458T>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1958A>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.640T>G
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8631
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25607
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11987
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

3-49758861-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758861
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758861
    reference: chr 3
allele count: 1
allele frequency: 9.185604320908273e-6
allele num: 108866
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*324A>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*324A>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.645T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4463T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1963A>G
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2142T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*123T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*123T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5783T>C
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12384
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

3-49758874-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758874
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758874
    reference: chr 3
allele count: 1
allele frequency: 9.839614287119945e-6
allele num: 101630
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4476A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1976T>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*311T>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*136A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5796A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.658A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*311T>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2155A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*136A>G
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21123
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5082
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30486
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

3-49758878-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758878
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758878
    reference: chr 3
allele count: 1
allele frequency: 1.008288128415576e-5
allele num: 99178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4480G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1980C>T
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*140G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.662G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*307C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2159G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*140G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*307C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5800G>A
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14099
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

3-49758897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758897
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758897
    reference: chr 3
allele count: 1
allele frequency: 1.192918833802548e-5
allele num: 83828
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-1999G>A
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2178C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*288G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*159C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*288G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*159C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5819C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4499C>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.681C>T
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11590
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-49758903-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758903
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758903
    reference: chr 3
allele count: 1
allele frequency: 1.229740032957033e-5
allele num: 81318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*165T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*282A>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2184T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*282A>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2005A>G
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4505T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.687T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*165T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5825T>C
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

3-49758904-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758904
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758904
    reference: chr 3
allele count: 1
allele frequency: 1.238175424694171e-5
allele num: 80764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*281C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*166G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2006C>T
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*281C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5826G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*166G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2185G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4506G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.688G>A
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25880
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5077
  bin: 7.5e0
  variant carriers: 0
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: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-49758913-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758913
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758913
    reference: chr 3
allele count: 1
allele frequency: 1.344122153821339e-5
allele num: 74398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5835C>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*272G>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2015G>T
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*272G>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*175C>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*175C>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.697C>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4515C>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2194C>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*272G>T
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

3-49758914-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758914
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758914
    reference: chr 3
allele count: 3
allele frequency: 4.069231186587814e-5
allele num: 73724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*271A>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.698T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*176T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*271A>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2016A>G
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4516T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*176T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2195T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5836T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*271A>G
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17322
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

3-49758918-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758918
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758918
    reference: chr 3
allele count: 1
allele frequency: 1.411153759313615e-5
allele num: 70864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*180C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2020G>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*267G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4520C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5840C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*267G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*180C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*267G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2199C>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.702C>G
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17949
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29290
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

3-49758920-T-TTCAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758920
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758924
    reference: chr 3
allele count: 1
allele frequency: 1.444168447807752e-5
allele num: 69244
alternate allele: TTCAG
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*187_*190dupTCAG
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*261_*264dupCTGA
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2026_-2023dupCTGA
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2206_*2209dupTCAG
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*261_*264dupCTGA
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*187_*190dupTCAG
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.709_712dupTCAG
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5847_5850dupTCAG
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4527_4530dupTCAG
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*261_*264dupCTGA
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-49758921-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758921
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758921
    reference: chr 3
allele count: 1
allele frequency: 1.459087195050776e-5
allele num: 68536
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*264A>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*264A>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4523T>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.705T>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*183T>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*264A>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*183T>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2202T>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2023A>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5843T>G
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18269
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

3-49758926-CAGGGCCACAGTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758926
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758914
    reference: chr 3
allele count: 1
allele frequency: 1.572425938738285e-5
allele num: 63596
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18213
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: CAGGGCCACAGTG
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

3-49758927-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758927
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758927
    reference: chr 3
allele count: 73
allele frequency: 1.148448807501101e-3
allele num: 63564
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4529A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2208A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*189A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*258T>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2029T>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*258T>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*189A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5849A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*258T>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.711A>G
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16248
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10531
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18195
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

3-49758936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758936
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758936
    reference: chr 3
allele count: 1
allele frequency: 1.944314823456214e-5
allele num: 51432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*249C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.720G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*198G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2217G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2038C>T
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4538G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*249C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*249C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*198G>A
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5858G>A
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17113
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15634
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

3-49758941-C-CATTAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758941
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758946
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 46748
alternate allele: CATTAA
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*208_*212dupAATTA
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2048_-2044dupTTAAT
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*239_*243dupTTAAT
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5868_5872dupAATTA
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*239_*243dupTTAAT
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*208_*212dupAATTA
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2227_*2231dupAATTA
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*239_*243dupTTAAT
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.730_734dupAATTA
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4548_4552dupAATTA
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17909
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16020
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17248
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-49758946-AATT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758946
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758943
    reference: chr 3
allele count: 5
allele frequency: 1.163061177017911e-4
allele num: 42990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*215_*217delATT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*236_*238delAAT
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*236_*238delAAT
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*236_*238delAAT
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2051_-2049delAAT
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.737_739delATT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4555_4557delATT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*215_*217delATT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5875_5877delATT
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2234_*2236delATT
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11218
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16826
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18859
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: AATT
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

3-49758948-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758948
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758948
    reference: chr 3
allele count: 1
allele frequency: 2.404886729835025e-5
allele num: 41582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.732T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*210T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2050A>G
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*237A>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4550T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5870T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*237A>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*210T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2229T>C
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*237A>G
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10562
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16909
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4494
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-49758950-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758950
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758950
    reference: chr 3
allele count: 3
allele frequency: 7.717240314863405e-5
allele num: 38874
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2052T>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*212A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.734A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*235T>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*235T>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5872A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2231A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*212A>G
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*235T>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4552A>G
  variant of: http://identifiers.org/hgnc/21148
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18884
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

3-49758958-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758958
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758958
    reference: chr 3
allele count: 1
allele frequency: 2.89234685023428e-5
allele num: 34574
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000328287
  ensembl transcript: ENST00000327697
  gene symbol: RNF123
  hgvsc: ENST00000327697.6:c.*220A>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*227T>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*227T>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000416156
  ensembl transcript: ENST00000433785
  gene symbol: RNF123
  hgvsc: ENST00000433785.1:c.*220A>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  hgvsc: ENST00000486102.1:n.4560A>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164068
  ensembl protein: ENSP00000394369
  ensembl transcript: ENST00000457726
  gene symbol: RNF123
  hgvsc: ENST00000457726.1:c.*2239A>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2060T>A
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000487805
  gene symbol: RNF123
  hgvsc: ENST00000487805.2:n.5880A>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  hgvsc: ENST00000498376.1:n.742A>T
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*227T>A
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17062
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-49758961-CAGCCCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49758961
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49758955
    reference: chr 3
allele count: 1
allele frequency: 3.038774766014343e-5
allele num: 32908
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*218_*223delAGGGCT
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000498376
  gene symbol: RNF123
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*218_*223delAGGGCT
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164068
  ensembl transcript: ENST00000486102
  gene symbol: RNF123
  variant of: http://identifiers.org/hgnc/21148
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*218_*223delAGGGCT
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17089
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7877
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16892
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6418
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4728
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: CAGCCCT
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-49759136-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49759136
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49759136
    reference: chr 3
allele count: 1
allele frequency: 9.30769373964519e-6
allele num: 107438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*49G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*49G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*49G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2238G>A
  variant of: http://identifiers.org/hgnc/24075
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14047
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7971
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13931
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7087
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

3-49759139-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49759139
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49759139
    reference: chr 3
allele count: 1
allele frequency: 9.305788200260563e-6
allele num: 107460
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2241G>A
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*46G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*46G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*46G>A
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7074
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 250
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
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genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4818
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

3-49759143-C-CTGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49759143
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49759146
    reference: chr 3
allele count: 1
allele frequency: 9.299730307821074e-6
allele num: 107530
alternate allele: CTGA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*39_*41dupTCA
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*39_*41dupTCA
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2248_-2246dupTCA
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*39_*41dupTCA
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8414
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7066
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4763
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

3-49759145-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49759145
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49759145
    reference: chr 3
allele count: 6
allele frequency: 5.576104533372986e-5
allele num: 107602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*40C>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*40C>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*40C>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2247C>A
  variant of: http://identifiers.org/hgnc/24075
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14407
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7066
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD

3-49759147-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49759147
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49759147
    reference: chr 3
allele count: 10
allele frequency: 9.287293125545628e-5
allele num: 107674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*38A>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2249A>G
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*38A>G
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*38A>G
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11874
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8756
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7067
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4754
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

3-49759148-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49759148
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49759148
    reference: chr 3
allele count: 1
allele frequency: 9.290917199345919e-6
allele num: 107632
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2250C>T
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*37C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*37C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*37C>T
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4741
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7060
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-49759149-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49759149
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49759149
    reference: chr 3
allele count: 57
allele frequency: 5.293658754039897e-4
allele num: 107676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*36C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*36C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2251C>T
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*36C>T
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14552
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7100
  bin: 9.75e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-49759155-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49759155
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49759155
    reference: chr 3
allele count: 1
allele frequency: 9.277126317351936e-6
allele num: 107792
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*30G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*30G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2257G>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*30G>C
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3589
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8057
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7047
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

3-49759156-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49759156
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49759156
    reference: chr 3
allele count: 2
allele frequency: 1.855838467819761e-5
allele num: 107768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*29G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*29G>C
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2258G>C
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*29G>C
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14804
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

3-49759156-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49759156
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49759156
    reference: chr 3
allele count: 18
allele frequency: 1.670254621037785e-4
allele num: 107768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*29G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*29G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2258G>A
  variant of: http://identifiers.org/hgnc/24075
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14804
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8684
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12024
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16523
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 4737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

3-49759157-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49759157
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49759157
    reference: chr 3
allele count: 1
allele frequency: 9.251378455389853e-6
allele num: 108092
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*28C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*28C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2259C>T
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*28C>T
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6936
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4747
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7040
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

3-49759158-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49759158
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49759158
    reference: chr 3
allele count: 1
allele frequency: 9.24658800902467e-6
allele num: 108148
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2260C>A
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*27C>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*27C>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*27C>A
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7041
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

3-49759163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49759163
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49759163
    reference: chr 3
allele count: 4
allele frequency: 3.691739732348869e-5
allele num: 108350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*22G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2265G>A
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*22G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*22G>A
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15154
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12096
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7042
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3589
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17270
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

3-49759164-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49759164
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49759164
    reference: chr 3
allele count: 2
allele frequency: 1.844065796267611e-5
allele num: 108456
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2266C>T
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*21C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*21C>T
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4853
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7039
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4765
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

3-49759173-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49759173
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 49759173
    reference: chr 3
allele count: 3
allele frequency: 2.731394650108345e-5
allele num: 109834
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000176020
  ensembl protein: ENSP00000439268
  ensembl transcript: ENST00000535833
  gene symbol: AMIGO3
  hgvsc: ENST00000535833.1:c.-2275G>A
  variant of: http://identifiers.org/hgnc/24075
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000309092
  ensembl transcript: ENST00000308375
  gene symbol: GMPPB
  hgvsc: ENST00000308375.6:c.*12G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000418565
  ensembl transcript: ENST00000480687
  gene symbol: GMPPB
  hgvsc: ENST00000480687.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/22932
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000173540
  ensembl protein: ENSP00000311130
  ensembl transcript: ENST00000308388
  gene symbol: GMPPB
  hgvsc: ENST00000308388.6:c.*12G>A
  variant of: http://identifiers.org/hgnc/22932
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12243
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2236
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27293
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18305
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 1.2852e1

VQSLOD
type: SiteQuality
SIO_000300: -1.565e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.523e0

MQRankSum
type: SiteQuality
SIO_000300: 2.73e0

QD
type: SiteQuality
SIO_000300: 1.208e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.21e-1

DP
type: SiteQuality
SIO_000300: 2.307948e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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

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

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

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

GenotypeQuality
all individuals: 18306
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 2179
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27292
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6336
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1841
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
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GenotypeQuality
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European (Non-Finnish)
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Latino
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East Asian
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African
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Other
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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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MQRankSum
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DP
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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European (Finnish)
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Latino
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Other
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MQRankSum
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InbreedingCoeff
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FS
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DP
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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African
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Other
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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QD
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InbreedingCoeff
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VQSLOD
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MQ
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DP
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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East Asian
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ClippingRankSum
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QD
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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MQ
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DP
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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MQ
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
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DP
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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African
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DP
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MQ
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QD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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DP
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MQ
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SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.34e-1

FS
type: SiteQuality
SIO_000300: 4.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.294e0

QD
type: SiteQuality
SIO_000300: 1.229e1

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

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6324
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1843
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27234
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
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

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: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.308509e6

VQSLOD
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.329e0

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.086e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.022e1

FS
type: SiteQuality
SIO_000300: 6.34e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
all individuals: 2238
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 18308
bin: 9.75e1
variant carriers: 5

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

GenotypeQuality
all individuals: 2182
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 10404
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: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.49265719594797e-5
allele num: 66732
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.258e1

DP
type: SiteQuality
SIO_000300: 2.309484e6

FS
type: SiteQuality
SIO_000300: 6.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.119e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

GenotypeQuality
all individuals: 2176
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 1837
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2238
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 6319
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variant carriers: 0

GenotypeQuality
all individuals: 27193
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.637e0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.023e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 2.308989e6

GenotypeQuality
all individuals: 1400
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

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

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 1840
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variant carriers: 0

GenotypeQuality
all individuals: 18310
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27198
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 908
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: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.116e1

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

DP
type: SiteQuality
SIO_000300: 2.309174e6

FS
type: SiteQuality
SIO_000300: 2.918e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
all individuals: 18315
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27123
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2238
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6308
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.175e0

VQSLOD
type: SiteQuality
SIO_000300: -6.914e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.882e0

QD
type: SiteQuality
SIO_000300: 1.661e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

FS
type: SiteQuality
SIO_000300: 7.151e0

DP
type: SiteQuality
SIO_000300: 2.30887e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28414
bin: 9.75e1
variant carriers: 27911

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 12

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 6

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4787
bin: 6.75e1
variant carriers: 7

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 7.75e1
variant carriers: 9

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 170
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variant carriers: 3

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1193
bin: 7.25e1
variant carriers: 5

Latino
type: Population
allele count: 2059
allele frequency: 1.7786800276434e-1
allele num: 11576
num of homozygotes: 207

European (Finnish)
type: Population
allele count: 1625
allele frequency: 2.456909585727245e-1
allele num: 6614
num of homozygotes: 205

African
type: Population
allele count: 2212
allele frequency: 2.136372416457408e-1
allele num: 10354
num of homozygotes: 245

East Asian
type: Population
allele count: 1532
allele frequency: 1.770688858067499e-1
allele num: 8652
num of homozygotes: 139

European (Non-Finnish)
type: Population
allele count: 20027
allele frequency: 3.002098635886674e-1
allele num: 66710
num of homozygotes: 2993

Other
type: Population
allele count: 252
allele frequency: 2.775330396475771e-1
allele num: 908
num of homozygotes: 38

South Asian
type: Population
allele count: 4817
allele frequency: 2.917979161618609e-1
allele num: 16508
num of homozygotes: 720

BaseQRankSum
type: SiteQuality
SIO_000300: 7.75e0

DP
type: SiteQuality
SIO_000300: 6.345106e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.99e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

QD
type: SiteQuality
SIO_000300: 1.806e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 1.651e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

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

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43521
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
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variant carriers: 0

GenotypeQuality
all individuals: 2132
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variant carriers: 0

GenotypeQuality
all individuals: 8761
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 1891
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 490
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variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2042
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.347e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.126e0

FS
type: SiteQuality
SIO_000300: 1.327e0

DP
type: SiteQuality
SIO_000300: 1.763014e6

QD
type: SiteQuality
SIO_000300: 1.21e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 2041
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
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GenotypeQuality
all individuals: 1055
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variant carriers: 0

GenotypeQuality
all individuals: 1889
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2134
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 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: 10234
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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

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

FS
type: SiteQuality
SIO_000300: 8.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

DP
type: SiteQuality
SIO_000300: 1.762784e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

QD
type: SiteQuality
SIO_000300: 1.412e1

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

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2134
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43536
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1889
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 220
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 488
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 8761
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
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 frequency: 0.0e0
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South Asian
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allele frequency: 3.634161114476075e-4
allele num: 16510
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999850007499625e-5
allele num: 66670
num of homozygotes: 0

Other
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InbreedingCoeff
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FS
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MQ
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DP
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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SIO_000300: 3.52e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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
allele num: 11578
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 898
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66636
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQ
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FS
type: SiteQuality
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.50220608097968e-5
allele num: 66634
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
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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
allele num: 8642
num of homozygotes: 0

Latino
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allele count: 8
allele frequency: 6.91085003455425e-4
allele num: 11576
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African
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allele count: 190
allele frequency: 1.864207221350079e-2
allele num: 10192
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South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.23e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.75e0

QD
type: SiteQuality
SIO_000300: 1.602e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.776946e6

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

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

African
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allele count: 5
allele frequency: 4.935834155972359e-4
allele num: 10130
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
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Latino
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.436999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
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 count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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BaseQRankSum
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SIO_000300: -3.517e0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.409e0

MQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.486e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

African
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.505978735580254e-5
allele num: 66402
num of homozygotes: 0

European (Finnish)
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allele count: 0
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ClippingRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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DP
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QD
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 1.731301939058172e-4
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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ClippingRankSum
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VQSLOD
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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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ReadPosRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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allele num: 16490
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Other
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QD
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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MQ
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ClippingRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
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allele num: 65896
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Other
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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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InbreedingCoeff
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QD
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ClippingRankSum
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65806
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 74
allele frequency: 7.50659362953946e-3
allele num: 9858
num of homozygotes: 1

Latino
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allele count: 6
allele frequency: 5.214670606640013e-4
allele num: 11506
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

FS
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

ClippingRankSum
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SIO_000300: 6.7e-2

BaseQRankSum
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SIO_000300: -3.287e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

QD
type: SiteQuality
SIO_000300: 1.541e1

DP
type: SiteQuality
SIO_000300: 1.721941e6

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.478865889719951e-4
allele num: 11498
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.425e0

DP
type: SiteQuality
SIO_000300: 1.713047e6

BaseQRankSum
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SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.814e1

MQ
type: SiteQuality
SIO_000300: 5.44e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524483200195134e-5
allele num: 65596
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.710743e6

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.194e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 8.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.581e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.667517192021657e-5
allele num: 64274
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.661835e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

QD
type: SiteQuality
SIO_000300: 1.34e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.21e-1

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.595710729558946e-5
allele num: 62668
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.601976e6

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-2

QD
type: SiteQuality
SIO_000300: 1.718e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.31e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.624853763161316e-5
allele num: 61544
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8930
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.203018590097552e-5
allele num: 10866
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61544
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

VQSLOD
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BaseQRankSum
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.633559853633037e-5
allele num: 61216
num of homozygotes: 0

Latino
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African
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South Asian
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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Latino
type: Population
allele count: 0
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allele num: 10554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 2.538071065989848e-3
allele num: 8668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60320
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

Other
type: Population
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allele frequency: 1.184834123222749e-3
allele num: 844
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

DP
type: SiteQuality
SIO_000300: 1.522766e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.21e-1

QD
type: SiteQuality
SIO_000300: 1.4e1

GenotypeQuality
all individuals: 320
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 309
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.312680493567866e-4
allele num: 7618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59300
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.665e0

VQSLOD
type: SiteQuality
SIO_000300: -1.302e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

MQ
type: SiteQuality
SIO_000300: 5.728e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.75e-1

DP
type: SiteQuality
SIO_000300: 1.486628e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

QD
type: SiteQuality
SIO_000300: 1.394e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6884
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.269680040629761e-4
allele num: 7876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55180
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15398
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.649999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

QD
type: SiteQuality
SIO_000300: 1.501e1

MQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

DP
type: SiteQuality
SIO_000300: 1.360829e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

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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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.859427296392711e-5
allele num: 53780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6650
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.816e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

QD
type: SiteQuality
SIO_000300: 5.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.85e0

DP
type: SiteQuality
SIO_000300: 1.318785e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.217196576648486e-5
allele num: 45102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5154
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.034e1

DP
type: SiteQuality
SIO_000300: 1.059986e6

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.289e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 292
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.289901534234028e-5
allele num: 43670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.764e0

DP
type: SiteQuality
SIO_000300: 1.015612e6

QD
type: SiteQuality
SIO_000300: 6.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

VQSLOD
type: SiteQuality
SIO_000300: -1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.31e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.44e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.307656805279919e-5
allele num: 43334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.284e0

DP
type: SiteQuality
SIO_000300: 1.004592e6

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

MQ
type: SiteQuality
SIO_000300: 5.817e1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5516
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.517876926175849e-5
allele num: 39716
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5160
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.171e0

MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-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
all individuals: 230
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5422
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.469375560203167e-5
allele num: 13388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.085693942938514e-5
allele num: 39326
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.28e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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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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European (Non-Finnish)
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allele num: 37676
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Other
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East Asian
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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FS
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DP
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ReadPosRankSum
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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allele num: 36722
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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VQSLOD
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BaseQRankSum
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DP
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MQRankSum
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MQ
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 4788
num of homozygotes: 0

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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East Asian
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allele frequency: 0.0e0
allele num: 3874
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European (Non-Finnish)
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allele num: 36296
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Other
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allele count: 0
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South Asian
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
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DP
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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SIO_000300: -2.0e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3394
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.982581722739203e-5
allele num: 33528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4678
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12668
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
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SIO_000300: -2.037e0

MQ
type: SiteQuality
SIO_000300: 5.444e1

DP
type: SiteQuality
SIO_000300: 7.80419e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.39e-2

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.71e0

VQSLOD
type: SiteQuality
SIO_000300: -1.106e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.214e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 28
allele frequency: 6.000857265323617e-3
allele num: 4666
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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Other
type: Population
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allele frequency: 1.805054151624549e-3
allele num: 554
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 44
allele frequency: 1.313197636244255e-3
allele num: 33506
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FS
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SIO_000300: 1.174e0

InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

DP
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SIO_000300: 7.78721e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 26474
num of homozygotes: 0

East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
type: Population
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Latino
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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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MQ
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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num of homozygotes: 0

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

East Asian
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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DP
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 424
num of homozygotes: 0

African
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele num: 21546
num of homozygotes: 0

South Asian
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East Asian
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.836525440123815e-5
allele num: 20676
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.20076e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 9.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

GenotypeQuality
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bin: 4.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.791736460078169e-4
allele num: 10746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.09e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.077e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.95e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 2.85e0

DP
type: SiteQuality
SIO_000300: 6.0674e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

MQ
type: SiteQuality
SIO_000300: 5.924e1

GenotypeQuality
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variant carriers: 2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.129704548240775e-5
allele num: 16314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1130
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.38e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.512e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

FS
type: SiteQuality
SIO_000300: 2.363e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.12e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-1

DP
type: SiteQuality
SIO_000300: 5.93254e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.811616954474098e-5
allele num: 10192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15314
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.391e1

DP
type: SiteQuality
SIO_000300: 5.93085e5

MQRankSum
type: SiteQuality
SIO_000300: -2.648e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.966e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.455e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.65e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.648e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1194
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.620798080975072e-5
allele num: 61698
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.653707e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.333e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 8.59e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61696
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.018329938900204e-4
allele num: 9820
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 1.393e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.65663e6

QD
type: SiteQuality
SIO_000300: 1.756e1

GenotypeQuality
all individuals: 4309
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.619643030676039e-5
allele num: 61742
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 9812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
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MQRankSum
type: SiteQuality
SIO_000300: -1.736e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 1.148e1

DP
type: SiteQuality
SIO_000300: 1.662302e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.521e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.529750055297501e-4
allele num: 9042
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.619328302620073e-5
allele num: 61754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.665438e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.04e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.546e0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

QD
type: SiteQuality
SIO_000300: 1.145e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9054
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.203369434416366e-3
allele num: 8310
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6502
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61792
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.113e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.185e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9052
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.203948952564411e-4
allele num: 8306
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61756
num of homozygotes: 0

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

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

Other
type: Population
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allele num: 784
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.523e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 1

European (Finnish)
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allele count: 2
allele frequency: 3.075030750307503e-4
allele num: 6504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 2
allele frequency: 2.211900022119e-4
allele num: 9042
num of homozygotes: 0

European (Non-Finnish)
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allele count: 40
allele frequency: 6.472701381921745e-4
allele num: 61798
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.76273576590869e-4
allele num: 11346
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.112459546925566e-3
allele num: 9888
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8314
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VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.669306e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2299
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9064
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.617233237377495e-5
allele num: 61834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.158e1

DP
type: SiteQuality
SIO_000300: 1.674521e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.571e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

GenotypeQuality
all individuals: 7058
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4737
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9056
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.275510204081633e-3
allele num: 784
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.818342151675486e-5
allele num: 11340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.149e0

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

DP
type: SiteQuality
SIO_000300: 1.677527e6

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

GenotypeQuality
all individuals: 7058
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 1149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4295
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.545936395759717e-3
allele num: 9056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.235094302998932e-5
allele num: 61822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.077870113881194e-4
allele num: 6498
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.677527e6

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

FS
type: SiteQuality
SIO_000300: 3.149e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

QD
type: SiteQuality
SIO_000300: 1.124e1

GenotypeQuality
all individuals: 360
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61970
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.809020436927414e-5
allele num: 11352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9122
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

FS
type: SiteQuality
SIO_000300: 2.525e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.681609e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

QD
type: SiteQuality
SIO_000300: 1.39e1

GenotypeQuality
all individuals: 3599
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.613475749459486e-5
allele num: 61978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.097e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.927e0

DP
type: SiteQuality
SIO_000300: 1.682528e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e-1

GenotypeQuality
all individuals: 4771
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8197
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.971220185294697e-4
allele num: 10146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62048
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.198465963566635e-4
allele num: 8344
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.091703056768559e-4
allele num: 9160
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.665e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

QD
type: SiteQuality
SIO_000300: 1.141e1

DP
type: SiteQuality
SIO_000300: 1.689426e6

GenotypeQuality
all individuals: 682
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17571
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8217
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.088613106901807e-4
allele num: 9186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.198753296571566e-4
allele num: 8342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62040
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

FS
type: SiteQuality
SIO_000300: 1.084e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

QD
type: SiteQuality
SIO_000300: 1.258e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 1.692847e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0