12-107155023-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155023
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155023
    reference: chr 12
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1702A>G
  hgvsp: ENSP00000229387.5:p.Ser568Gly
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2011A>G
  hgvsp: ENSP00000350552.4:p.Ser671Gly
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.1984A>G
  hgvsp: ENSP00000376585.1:p.Ser662Gly
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13445T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13445T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37773
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser671Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-107155026-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155026
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155026
    reference: chr 12
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2014A>G
  hgvsp: ENSP00000350552.4:p.Thr672Ala
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1705A>G
  hgvsp: ENSP00000229387.5:p.Thr569Ala
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13442T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13442T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.1987A>G
  hgvsp: ENSP00000376585.1:p.Thr663Ala
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37768
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr672Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

12-107155036-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155036
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155036
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13432A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13432A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.1997T>C
  hgvsp: ENSP00000376585.1:p.Leu666Pro
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2024T>C
  hgvsp: ENSP00000350552.4:p.Leu675Pro
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1715T>C
  hgvsp: ENSP00000229387.5:p.Leu572Pro
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13256
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu675Pro
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

12-107155045-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155045
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155045
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2033C>G
  hgvsp: ENSP00000350552.4:p.Thr678Ser
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2006C>G
  hgvsp: ENSP00000376585.1:p.Thr669Ser
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1724C>G
  hgvsp: ENSP00000229387.5:p.Thr575Ser
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13423G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13423G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13263
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr678Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

12-107155047-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155047
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155047
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2008C>G
  hgvsp: ENSP00000376585.1:p.Pro670Ala
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13421G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13421G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1726C>G
  hgvsp: ENSP00000229387.5:p.Pro576Ala
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2035C>G
  hgvsp: ENSP00000350552.4:p.Pro679Ala
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11628
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro679Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/12-107155048-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155048
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155048
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1727C>A
  hgvsp: ENSP00000229387.5:p.Pro576Gln
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13420G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2009C>A
  hgvsp: ENSP00000376585.1:p.Pro670Gln
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2036C>A
  hgvsp: ENSP00000350552.4:p.Pro679Gln
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13420G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro679Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

12-107155048-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155048
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155048
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2009C>T
  hgvsp: ENSP00000376585.1:p.Pro670Leu
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13420G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2036C>T
  hgvsp: ENSP00000350552.4:p.Pro679Leu
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13420G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1727C>T
  hgvsp: ENSP00000229387.5:p.Pro576Leu
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro679Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

12-107155050-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155050
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155050
    reference: chr 12
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13418C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2011G>C
  hgvsp: ENSP00000376585.1:p.Val671Leu
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2038G>C
  hgvsp: ENSP00000350552.4:p.Val680Leu
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1729G>C
  hgvsp: ENSP00000229387.5:p.Val577Leu
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13418C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13265
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val680Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-107155059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155059
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155059
    reference: chr 12
allele count: 10
allele frequency: 8.238046594391538e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13409G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13409G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1738C>T
  hgvsp: ENSP00000229387.5:p.Arg580Cys
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2047C>T
  hgvsp: ENSP00000350552.4:p.Arg683Cys
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2020C>T
  hgvsp: ENSP00000376585.1:p.Arg674Cys
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11636
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37799
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg683Cys
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-107155060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155060
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155060
    reference: chr 12
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1739G>A
  hgvsp: ENSP00000229387.5:p.Arg580His
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2048G>A
  hgvsp: ENSP00000350552.4:p.Arg683His
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13408C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2021G>A
  hgvsp: ENSP00000376585.1:p.Arg674His
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13408C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg683His
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-107155071-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155071
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155071
    reference: chr 12
allele count: 6
allele frequency: 4.943398091848337e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2059G>A
  hgvsp: ENSP00000350552.4:p.Val687Met
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13397C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13397C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2032G>A
  hgvsp: ENSP00000376585.1:p.Val678Met
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1750G>A
  hgvsp: ENSP00000229387.5:p.Val584Met
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val687Met
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/12-107155074-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155074
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155074
    reference: chr 12
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13394G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1753C>A
  hgvsp: ENSP00000229387.5:p.Pro585Thr
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2062C>A
  hgvsp: ENSP00000350552.4:p.Pro688Thr
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2035C>A
  hgvsp: ENSP00000376585.1:p.Pro679Thr
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13394G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37821
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro688Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-107155078-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155078
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155078
    reference: chr 12
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13390G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13390G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2039C>T
  hgvsp: ENSP00000376585.1:p.Ser680Leu
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1757C>T
  hgvsp: ENSP00000229387.5:p.Ser586Leu
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2066C>T
  hgvsp: ENSP00000350552.4:p.Ser689Leu
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37827
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser689Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

12-107155087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155087
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155087
    reference: chr 12
allele count: 20
allele frequency: 1.647799363949446e-4
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2075C>T
  hgvsp: ENSP00000350552.4:p.Thr692Met
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1766C>T
  hgvsp: ENSP00000229387.5:p.Thr589Met
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13381G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2048C>T
  hgvsp: ENSP00000376585.1:p.Thr683Met
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13381G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 18075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 9.75e1
  variant carriers: 20
hgvs: p.Thr692Met
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

12-107155103-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155103
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155103
    reference: chr 12
allele count: 9
allele frequency: 7.415830325802145e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13365C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13365C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2064G>A
  hgvsp: ENST00000392842.1:c.2064G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2091G>A
  hgvsp: ENST00000357881.4:c.2091G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1782G>A
  hgvsp: ENST00000229387.5:c.1782G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Pro697Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

12-107155113-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155113
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155113
    reference: chr 12
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13355A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13355A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2074T>G
  hgvsp: ENSP00000376585.1:p.Ser692Ala
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2101T>G
  hgvsp: ENSP00000350552.4:p.Ser701Ala
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1792T>G
  hgvsp: ENSP00000229387.5:p.Ser598Ala
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser701Ala
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-107155115-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155115
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155115
    reference: chr 12
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13353A>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1794T>G
  hgvsp: ENST00000229387.5:c.1794T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2076T>G
  hgvsp: ENST00000392842.1:c.2076T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13353A>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2103T>G
  hgvsp: ENST00000357881.4:c.2103T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser701Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

12-107155117-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155117
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155117
    reference: chr 12
allele count: 959
allele frequency: 7.902239654575718e-3
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13351G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2078C>T
  hgvsp: ENSP00000376585.1:p.Ala693Val
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2105C>T
  hgvsp: ENSP00000350552.4:p.Ala702Val
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13351G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1796C>T
  hgvsp: ENSP00000229387.5:p.Ala599Val
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 9.75e1
  variant carriers: 570
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18070
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11666
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 12721
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 9.75e1
  variant carriers: 954
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala702Val
num of homozygotes: 5
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-107155118-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155118
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155118
    reference: chr 12
allele count: 5
allele frequency: 4.120245236996506e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2106G>A
  hgvsp: ENST00000357881.4:c.2106G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1797G>A
  hgvsp: ENST00000229387.5:c.1797G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13350C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2079G>A
  hgvsp: ENST00000392842.1:c.2079G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13350C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala702Ala
num of homozygotes: 1
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-107155120-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155120
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155120
    reference: chr 12
allele count: 3
allele frequency: 2.472024918011174e-5
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2108G>A
  hgvsp: ENSP00000350552.4:p.Arg703Lys
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13348C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1799G>A
  hgvsp: ENSP00000229387.5:p.Arg600Lys
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2081G>A
  hgvsp: ENSP00000376585.1:p.Arg694Lys
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13348C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg703Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

12-107155131-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155131
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155131
    reference: chr 12
allele count: 479
allele frequency: 3.94699978575784e-3
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13337A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2092T>G
  hgvsp: ENSP00000376585.1:p.Ser698Ala
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2119T>G
  hgvsp: ENSP00000350552.4:p.Ser707Ala
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1810T>G
  hgvsp: ENSP00000229387.5:p.Ser604Ala
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13337A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 6834
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18370
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 11888
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 194
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 9.75e1
  variant carriers: 473
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38394
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser707Ala
num of homozygotes: 5
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-107155133-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155133
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155133
    reference: chr 12
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2121T>C
  hgvsp: ENST00000357881.4:c.2121T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13335A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13335A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1812T>C
  hgvsp: ENST00000229387.5:c.1812T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2094T>C
  hgvsp: ENST00000392842.1:c.2094T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser707Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

12-107155135-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155135
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155135
    reference: chr 12
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13333C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13333C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1814G>A
  hgvsp: ENSP00000229387.5:p.Ser605Asn
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2123G>A
  hgvsp: ENSP00000350552.4:p.Ser708Asn
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2096G>A
  hgvsp: ENSP00000376585.1:p.Ser699Asn
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser708Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

12-107155143-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155143
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155143
    reference: chr 12
allele count: 7
allele frequency: 5.767677932864229e-5
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13325A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2131T>C
  hgvsp: ENSP00000350552.4:p.Tyr711His
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1822T>C
  hgvsp: ENSP00000229387.5:p.Tyr608His
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13325A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2104T>C
  hgvsp: ENSP00000376585.1:p.Tyr702His
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr711His
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

12-107155150-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155150
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155150
    reference: chr 12
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13318G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2138C>T
  hgvsp: ENSP00000350552.4:p.Pro713Leu
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13318G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1829C>T
  hgvsp: ENSP00000229387.5:p.Pro610Leu
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2111C>T
  hgvsp: ENSP00000376585.1:p.Pro704Leu
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38688
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro713Leu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

12-107155159-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155159
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155159
    reference: chr 12
allele count: 6
allele frequency: 4.944783253667381e-5
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2120C>T
  hgvsp: ENSP00000376585.1:p.Thr707Met
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13309G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13309G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2147C>T
  hgvsp: ENSP00000350552.4:p.Thr716Met
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1838C>T
  hgvsp: ENSP00000229387.5:p.Thr613Met
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6867
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 13547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr716Met
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

12-107155162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155162
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155162
    reference: chr 12
allele count: 5
allele frequency: 4.120788554097712e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13306C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13306C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2150G>A
  hgvsp: ENSP00000350552.4:p.Arg717His
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1841G>A
  hgvsp: ENSP00000229387.5:p.Arg614His
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2123G>A
  hgvsp: ENSP00000376585.1:p.Arg708His
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg717His
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-107155163-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155163
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155163
    reference: chr 12
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2124C>A
  hgvsp: ENST00000392842.1:c.2124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13305G>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2151C>A
  hgvsp: ENST00000357881.4:c.2151C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1842C>A
  hgvsp: ENST00000229387.5:c.1842C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13305G>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg717Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-107155181-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155181
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155181
    reference: chr 12
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13287C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13287C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2169G>C
  hgvsp: ENSP00000350552.4:p.Glu723Asp
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1860G>C
  hgvsp: ENSP00000229387.5:p.Glu620Asp
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2142G>C
  hgvsp: ENSP00000376585.1:p.Glu714Asp
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13536
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu723Asp
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-107155196-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155196
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155196
    reference: chr 12
allele count: 5
allele frequency: 4.122147473948028e-5
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13272A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2184T>C
  hgvsp: ENST00000357881.4:c.2184T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1875T>C
  hgvsp: ENST00000229387.5:c.1875T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2157T>C
  hgvsp: ENST00000392842.1:c.2157T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13272A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13016
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13512
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe728Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-107155197-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155197
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155197
    reference: chr 12
allele count: 2
allele frequency: 1.648994937585542e-5
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2185C>T
  hgvsp: ENSP00000350552.4:p.Pro729Ser
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2158C>T
  hgvsp: ENSP00000376585.1:p.Pro720Ser
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1876C>T
  hgvsp: ENSP00000229387.5:p.Pro626Ser
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13271G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13271G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro729Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-107155214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155214
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155214
    reference: chr 12
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2175C>T
  hgvsp: ENST00000392842.1:c.2175C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2202C>T
  hgvsp: ENST00000357881.4:c.2202C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13254G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13254G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1893C>T
  hgvsp: ENST00000229387.5:c.1893C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile734Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

12-107155233-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155233
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155233
    reference: chr 12
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1912G>A
  hgvsp: ENSP00000229387.5:p.Gly638Arg
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2194G>A
  hgvsp: ENSP00000376585.1:p.Gly732Arg
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13235C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2221G>A
  hgvsp: ENSP00000350552.4:p.Gly741Arg
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13235C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38072
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly741Arg
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: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP

12-107155237-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155237
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155237
    reference: chr 12
allele count: 1
allele frequency: 8.270888127967181e-6
allele num: 120906
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13231C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13231C>T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2225G>A
  hgvsp: ENSP00000350552.4:p.Trp742Ter
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1916G>A
  hgvsp: ENSP00000229387.5:p.Trp639Ter
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2198G>A
  hgvsp: ENSP00000376585.1:p.Trp733Ter
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37773
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Trp742Ter
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

12-107155244-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155244
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155244
    reference: chr 12
allele count: 1
allele frequency: 8.29132395860971e-6
allele num: 120608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.1923A>G
  hgvsp: ENST00000229387.5:c.1923A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13224T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13224T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.2232A>G
  hgvsp: ENST00000357881.4:c.2232A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.2205A>G
  hgvsp: ENST00000392842.1:c.2205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13140
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys744Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-107155254-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155254
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155254
    reference: chr 12
allele count: 2
allele frequency: 1.671821449469197e-5
allele num: 119630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13214A>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.*7T>A
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13214A>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.*7T>A
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.*7T>A
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

12-107155261-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155261
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155261
    reference: chr 12
allele count: 5
allele frequency: 4.330429058911157e-5
allele num: 115462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.*14C>T
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13207G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.*14C>T
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.*14C>T
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13207G>A
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7384
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

12-107155268-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155268
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155268
    reference: chr 12
allele count: 1
allele frequency: 1.108057796294655e-5
allele num: 90248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13200T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.*21A>G
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13200T>C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.*21A>G
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.*21A>G
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16796
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11673
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6025
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-107155269-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155269
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155269
    reference: chr 12
allele count: 1
allele frequency: 1.10845082912122e-5
allele num: 90216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13199A>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.*22T>G
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.*22T>G
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.*22T>G
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13199A>C
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6011
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/12-107155272-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155272
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155272
    reference: chr 12
allele count: 1
allele frequency: 2.115417160264004e-5
allele num: 47272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13196T>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.*25A>C
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13196T>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.*25A>C
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.*25A>C
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10563
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25559
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

12-107155274-TATTAATAATAATA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155274
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155261
    reference: chr 12
allele count: 2
allele frequency: 4.208931352329643e-5
allele num: 47518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 12259
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15771
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17439
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25665
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: TATTAATAATAATA
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

12-107155276-TTAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155276
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155273
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 36806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.*40_*42delAAT
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13189_209+13191delTTA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13189_142+13191delTTA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.*40_*42delAAT
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.*40_*42delAAT
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12421
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12889
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26483
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: TTAA
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-107155282-ATAATAAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155282
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155275
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 9914
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.*43_*49delTAATAAT
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.*43_*49delTAATAAT
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.*43_*49delTAATAAT
  variant of: http://identifiers.org/hgnc/9985
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9885
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20913
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9776
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: ATAATAAT
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

12-107155286-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107155286
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107155286
    reference: chr 12
allele count: 1
allele frequency: 9.908838684106223e-5
allele num: 10092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000376585
  ensembl transcript: ENST00000392842
  gene symbol: RFX4
  hgvsc: ENST00000392842.1:c.*39T>C
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+13182A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000229387
  ensembl transcript: ENST00000229387
  gene symbol: RFX4
  hgvsc: ENST00000229387.5:c.*39T>C
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111783
  ensembl protein: ENSP00000350552
  ensembl transcript: ENST00000357881
  gene symbol: RFX4
  hgvsc: ENST00000357881.4:c.*39T>C
  variant of: http://identifiers.org/hgnc/9985
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+13182A>G
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21494
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9286
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

12-107168411-GGGAAAGAGGGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168411
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168399
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 2358
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12026
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3539
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GGGAAAGAGGGAA
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-107168419-GGGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168419
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168415
    reference: chr 12
allele count: 1
allele frequency: 3.706449221645663e-4
allele num: 2698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.-95_-92delGAAG
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.-95_-92delGAAG
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.-95_-92delGAAG
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+45_209+48delTTCC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+45_142+48delTTCC
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13073
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: GGGAA
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-107168423-AGGAAGGAAGCTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168423
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168411
    reference: chr 12
allele count: 1
allele frequency: 3.457814661134163e-4
allele num: 2892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13420
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: AGGAAGGAAGCTG
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-107168444-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168444
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168444
    reference: chr 12
allele count: 3
allele frequency: 6.784260515603799e-4
allele num: 4422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+24G>A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.-80C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+24G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.-80C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.-80C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.4C>T
  hgvsp: ENSP00000447701.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/25555
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16236
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4674
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14297
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala2Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-107168448-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168448
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168447
    reference: chr 12
allele count: 1
allele frequency: 2.010454362685967e-4
allele num: 4974
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+19delC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.-71delG
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.13delG
  hgvsp: ENSP00000447701.1:p.Gly5AlafsTer46
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.-71delG
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-284delG
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+19delC
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.-71delG
  variant of: http://identifiers.org/hgnc/25555
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17018
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15376
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly5AlafsTer46
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: CG
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

12-107168449-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168449
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168449
    reference: chr 12
allele count: 1
allele frequency: 1.853911753800519e-4
allele num: 5394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.-75G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.142+19C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.9G>C
  hgvsp: ENSP00000447701.1:p.Gly4Arg
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.-75G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-288G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.-75G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.209+19C>G
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17089
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15447
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly4Arg
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: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

12-107168476-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168476
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168476
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 8290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-296A>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.-48A>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.201T>A
  hgvsp: ENST00000551505.1:c.201T>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.134T>A
  hgvsp: ENST00000549203.1:c.134T>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.-48A>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.-48A>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-261A>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.36A>T
  hgvsp: ENSP00000447701.1:p.Ser13Cys
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.-48A>T
  variant of: http://identifiers.org/hgnc/25555
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12089
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser13Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

12-107168484-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168484
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168484
    reference: chr 12
allele count: 18
allele frequency: 3.584229390681004e-3
allele num: 5022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.126C>A
  hgvsp: ENSP00000450098.1:p.Gln43Lys
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-253G>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-288G>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.44G>T
  hgvsp: ENSP00000447701.1:p.Leu15Phe
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.-40G>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.193C>A
  hgvsp: ENSP00000449766.1:p.Gln65Lys
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.-40G>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.-40G>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.-40G>T
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11646
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 1.75e1
  variant carriers: 2
hgvs: p.Gln65Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

12-107168487-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168487
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168487
    reference: chr 12
allele count: 1
allele frequency: 1.502855425308085e-4
allele num: 6654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.-37C>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.47C>G
  hgvsp: ENST00000548914.1:c.47C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.190G>C
  hgvsp: ENSP00000449766.1:p.Ala64Pro
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-285C>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.-37C>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.123G>C
  hgvsp: ENSP00000450098.1:p.Ala42Pro
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-250C>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.-37C>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.-37C>G
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12860
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10069
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala64Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

12-107168490-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168490
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168490
    reference: chr 12
allele count: 5
allele frequency: 6.319514661274014e-4
allele num: 7912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-247G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.120C>G
  hgvsp: ENSP00000450098.1:p.Arg41Gly
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.-34G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.-34G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.50G>C
  hgvsp: ENST00000548914.1:c.50G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.-34G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.187C>G
  hgvsp: ENSP00000449766.1:p.Arg63Gly
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.-34G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-282G>C
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13936
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11469
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg63Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

12-107168503-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168503
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168503
    reference: chr 12
allele count: 60
allele frequency: 6.041079339508659e-3
allele num: 9932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.-21G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-269G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.63G>C
  hgvsp: ENSP00000447701.1:p.Gly22Arg
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.174C>G
  hgvsp: ENST00000551505.1:c.174C>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-234G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.-21G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.-21G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.-21G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.107C>G
  hgvsp: ENST00000549203.1:c.107C>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.-21G>C
  variant of: http://identifiers.org/hgnc/25555
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19382
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly22Arg
num of homozygotes: 3
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

12-107168507-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168507
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168507
    reference: chr 12
allele count: 16
allele frequency: 1.470858613715757e-3
allele num: 10878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.103G>A
  hgvsp: ENSP00000450098.1:p.Gly35Glu
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.170G>A
  hgvsp: ENSP00000449766.1:p.Gly57Glu
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.-17C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-230C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-265C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.67C>T
  hgvsp: ENSP00000447701.1:p.Ser23Phe
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.-17C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.-17C>T
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21491
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly57Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

12-107168537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168537
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168537
    reference: chr 12
allele count: 1
allele frequency: 5.982292414453218e-5
allele num: 16716
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.140C>T
  hgvsp: ENSP00000449766.1:p.Ala47Val
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-200G>A
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.14G>A
  hgvsp: ENSP00000376583.2:p.Arg5His
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.73C>T
  hgvsp: ENSP00000450098.1:p.Ala25Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.14G>A
  hgvsp: ENSP00000376582.4:p.Arg5His
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111785
  ensembl transcript: ENST00000470628
  gene symbol: RIC8B
  hgvsc: ENST00000470628.2:n.14G>A
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.14G>A
  hgvsp: ENSP00000448743.1:p.Arg5His
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.14G>A
  hgvsp: ENSP00000447801.1:p.Arg5His
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.97G>A
  hgvsp: ENSP00000447701.1:p.Arg33His
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-235G>A
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.14G>A
  hgvsp: ENSP00000435301.1:p.Arg5His
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33503
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala47Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

12-107168545-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168545
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168545
    reference: chr 12
allele count: 1
allele frequency: 5.681818181818182e-5
allele num: 17600
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.22T>G
  hgvsp: ENSP00000376583.2:p.Tyr8Asp
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-192T>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.22T>G
  hgvsp: ENSP00000435301.1:p.Tyr8Asp
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.22T>G
  hgvsp: ENSP00000376582.4:p.Tyr8Asp
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.22T>G
  hgvsp: ENSP00000447801.1:p.Tyr8Asp
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.105T>G
  hgvsp: ENSP00000447701.1:p.Tyr36Asp
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.132A>C
  hgvsp: ENST00000551505.1:c.132A>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.65A>C
  hgvsp: ENST00000549203.1:c.65A>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111785
  ensembl transcript: ENST00000470628
  gene symbol: RIC8B
  hgvsc: ENST00000470628.2:n.22T>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.22T>G
  hgvsp: ENSP00000448743.1:p.Tyr8Asp
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-227T>G
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34640
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr8Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-107168558-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168558
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168558
    reference: chr 12
allele count: 1
allele frequency: 5.406574394463668e-5
allele num: 18496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.118C>T
  hgvsp: ENSP00000447701.1:p.Ala40Val
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.35C>T
  hgvsp: ENSP00000435301.1:p.Ala12Val
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-214C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.119G>A
  hgvsp: ENSP00000449766.1:p.Gly40Asp
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.52G>A
  hgvsp: ENSP00000450098.1:p.Gly18Asp
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111785
  ensembl transcript: ENST00000470628
  gene symbol: RIC8B
  hgvsc: ENST00000470628.2:n.35C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.35C>T
  hgvsp: ENSP00000448743.1:p.Ala12Val
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-179C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.35C>T
  hgvsp: ENSP00000376582.4:p.Ala12Val
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.35C>T
  hgvsp: ENSP00000447801.1:p.Ala12Val
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.35C>T
  hgvsp: ENSP00000376583.2:p.Ala12Val
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34017
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly40Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

12-107168562-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168562
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168562
    reference: chr 12
allele count: 1
allele frequency: 5.351600128438403e-5
allele num: 18686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.122C>T
  hgvsp: ENST00000548914.1:c.122C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-210C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.48G>A
  hgvsp: ENSP00000450098.1:p.Ala17Thr
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.39C>T
  hgvsp: ENST00000392837.4:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-175C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.39C>T
  hgvsp: ENST00000552619.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.115G>A
  hgvsp: ENSP00000449766.1:p.Ala39Thr
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111785
  ensembl transcript: ENST00000470628
  gene symbol: RIC8B
  hgvsc: ENST00000470628.2:n.39C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.39C>T
  hgvsp: ENST00000550215.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.39C>T
  hgvsp: ENST00000392839.2:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.39C>T
  hgvsp: ENST00000462949.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33711
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala39Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/12-107168565-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168565
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168565
    reference: chr 12
allele count: 1
allele frequency: 5.2988554472234e-5
allele num: 18872
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.42A>C
  hgvsp: ENSP00000376583.2:p.Glu14Asp
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-172A>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.42A>C
  hgvsp: ENSP00000376582.4:p.Glu14Asp
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.42A>C
  hgvsp: ENSP00000447801.1:p.Glu14Asp
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111785
  ensembl transcript: ENST00000470628
  gene symbol: RIC8B
  hgvsc: ENST00000470628.2:n.42A>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.42A>C
  hgvsp: ENSP00000435301.1:p.Glu14Asp
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.45T>G
  hgvsp: ENSP00000450098.1:p.Phe16Val
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-207A>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.42A>C
  hgvsp: ENSP00000448743.1:p.Glu14Asp
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.125A>C
  hgvsp: ENSP00000447701.1:p.Glu42Asp
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.112T>G
  hgvsp: ENSP00000449766.1:p.Phe38Val
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33667
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe38Val
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-107168572-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168572
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168572
    reference: chr 12
allele count: 3
allele frequency: 1.569365976145637e-4
allele num: 19116
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-165G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.49G>C
  hgvsp: ENSP00000448743.1:p.Ala17Pro
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-200G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.105C>G
  hgvsp: ENSP00000449766.1:p.Ser35Arg
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.49G>C
  hgvsp: ENSP00000447801.1:p.Ala17Pro
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.38C>G
  hgvsp: ENSP00000450098.1:p.Ser13Arg
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.132G>C
  hgvsp: ENSP00000447701.1:p.Ala45Pro
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.49G>C
  hgvsp: ENSP00000376582.4:p.Ala17Pro
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.49G>C
  hgvsp: ENSP00000376583.2:p.Ala17Pro
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.49G>C
  hgvsp: ENSP00000435301.1:p.Ala17Pro
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111785
  ensembl transcript: ENST00000470628
  gene symbol: RIC8B
  hgvsc: ENST00000470628.2:n.49G>C
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser35Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

12-107168574-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168574
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168574
    reference: chr 12
allele count: 1
allele frequency: 5.209961446285297e-5
allele num: 19194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.51T>C
  hgvsp: ENST00000462949.1:c.51T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.51T>C
  hgvsp: ENST00000392837.4:c.51T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.36A>G
  hgvsp: ENSP00000450098.1:p.Ser13Gly
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111785
  ensembl transcript: ENST00000470628
  gene symbol: RIC8B
  hgvsc: ENST00000470628.2:n.51T>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.103A>G
  hgvsp: ENSP00000449766.1:p.Ser35Gly
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-198T>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.51T>C
  hgvsp: ENST00000550215.1:c.51T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.134T>C
  hgvsp: ENST00000548914.1:c.134T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.51T>C
  hgvsp: ENST00000552619.1:c.51T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-163T>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.51T>C
  hgvsp: ENST00000392839.2:c.51T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser35Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

12-107168601-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168601
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168601
    reference: chr 12
allele count: 2
allele frequency: 1.043187982474442e-4
allele num: 19172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.78C>T
  hgvsp: ENST00000392837.4:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.78C>T
  hgvsp: ENST00000552619.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-171C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.78C>T
  hgvsp: ENST00000392839.2:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.76G>A
  hgvsp: ENSP00000449766.1:p.Ala26Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000450098
  ensembl transcript: ENST00000549203
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000549203.1:c.9G>A
  hgvsp: ENSP00000450098.1:p.Ala4Thr
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.78C>T
  hgvsp: ENST00000550215.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-136C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.161C>T
  hgvsp: ENST00000548914.1:c.161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.78C>T
  hgvsp: ENST00000462949.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111785
  ensembl transcript: ENST00000470628
  gene symbol: RIC8B
  hgvsc: ENST00000470628.2:n.78C>T
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala26Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

12-107168609-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168609
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168607
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 18664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-130+4_-130+5delAA
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.84+4_84+5delAA
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.66_67delTT
  hgvsp: ENSP00000449766.1:p.Tyr23ProfsTer12
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.84+4_84+5delAA
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.167+4_167+5delAA
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl transcript: ENST00000470628
  gene symbol: RIC8B
  hgvsc: ENST00000470628.2:n.84+4_84+5delAA
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.84+4_84+5delAA
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.84+4_84+5delAA
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.84+4_84+5delAA
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-165+4_-165+5delAA
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32049
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr23ProfsTer12
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: TAA
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD

12-107168616-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168616
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168616
    reference: chr 12
allele count: 1
allele frequency: 5.52791597567717e-5
allele num: 18090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.84+9T>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-130+9T>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl transcript: ENST00000470628
  gene symbol: RIC8B
  hgvsc: ENST00000470628.2:n.84+9T>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.84+9T>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-165+9T>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.61A>G
  hgvsp: ENSP00000449766.1:p.Thr21Ala
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.84+9T>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.84+9T>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.167+9T>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.84+9T>C
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5292
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr21Ala
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-107168622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168622
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168622
    reference: chr 12
allele count: 7
allele frequency: 4.018831094270295e-4
allele num: 17418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl transcript: ENST00000470628
  gene symbol: RIC8B
  hgvsc: ENST00000470628.2:n.84+15C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.84+15C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.55G>A
  hgvsp: ENSP00000449766.1:p.Ala19Thr
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.167+15C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.84+15C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-165+15C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.84+15C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.84+15C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-130+15C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.84+15C>T
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29715
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 2
hgvs: p.Ala19Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

12-107168625-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168625
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168625
    reference: chr 12
allele count: 1
allele frequency: 5.899008966493629e-5
allele num: 16952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.167+18C>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.84+18C>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-165+18C>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl transcript: ENST00000470628
  gene symbol: RIC8B
  hgvsc: ENST00000470628.2:n.84+18C>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.84+18C>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.84+18C>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.52G>C
  hgvsp: ENSP00000449766.1:p.Gly18Arg
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.84+18C>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.84+18C>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-130+18C>G
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly18Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

12-107168630-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168630
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168630
    reference: chr 12
allele count: 1
allele frequency: 6.147792942333702e-5
allele num: 16266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-165+23G>A
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.84+23G>A
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.84+23G>A
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.84+23G>A
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.47C>T
  hgvsp: ENSP00000449766.1:p.Thr16Met
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.84+23G>A
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.84+23G>A
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl transcript: ENST00000470628
  gene symbol: RIC8B
  hgvsc: ENST00000470628.2:n.84+23G>A
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-130+23G>A
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.167+23G>A
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr16Met
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-107168635-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168635
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168635
    reference: chr 12
allele count: 1
allele frequency: 6.375111564452378e-5
allele num: 15686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.84+28G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl transcript: ENST00000470628
  gene symbol: RIC8B
  hgvsc: ENST00000470628.2:n.84+28G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.84+28G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-165+28G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.167+28G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.84+28G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.84+28G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.42C>G
  hgvsp: ENSP00000449766.1:p.Tyr14Ter
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-130+28G>C
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.84+28G>C
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr14Ter
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

12-107168637-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168637
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168637
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 15382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.84+30A>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.40T>C
  hgvsp: ENSP00000449766.1:p.Tyr14His
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-165+30A>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.84+30A>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-130+30A>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.84+30A>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.84+30A>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.167+30A>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl transcript: ENST00000470628
  gene symbol: RIC8B
  hgvsc: ENST00000470628.2:n.84+30A>G
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.84+30A>G
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24910
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr14His
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

12-107168645-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 107168645
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 107168645
    reference: chr 12
allele count: 1
allele frequency: 7.165376898824878e-5
allele num: 13956
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376583
  ensembl transcript: ENST00000392839
  gene symbol: RIC8B
  hgvsc: ENST00000392839.2:c.84+38C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000448743
  ensembl transcript: ENST00000552619
  gene symbol: RIC8B
  hgvsc: ENST00000552619.1:c.84+38C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000450396
  ensembl transcript: ENST00000549643
  gene symbol: RIC8B
  hgvsc: ENST00000549643.1:c.-165+38C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl transcript: ENST00000470628
  gene symbol: RIC8B
  hgvsc: ENST00000470628.2:n.84+38C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000435301
  ensembl transcript: ENST00000462949
  gene symbol: RIC8B
  hgvsc: ENST00000462949.1:c.84+38C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447801
  ensembl transcript: ENST00000550215
  gene symbol: RIC8B
  hgvsc: ENST00000550215.1:c.84+38C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000347662
  ensembl transcript: ENST00000355478
  gene symbol: RIC8B
  hgvsc: ENST00000355478.2:c.-130+38C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257545
  ensembl protein: ENSP00000449766
  ensembl transcript: ENST00000551505
  gene symbol: RP11-144F15.1
  hgvsc: ENST00000551505.1:c.32G>A
  hgvsp: ENSP00000449766.1:p.Gly11Glu
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000447701
  ensembl transcript: ENST00000548914
  gene symbol: RIC8B
  hgvsc: ENST00000548914.1:c.167+38C>T
  variant of: http://identifiers.org/hgnc/25555
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111785
  ensembl protein: ENSP00000376582
  ensembl transcript: ENST00000392837
  gene symbol: RIC8B
  hgvsc: ENST00000392837.4:c.84+38C>T
  variant of: http://identifiers.org/hgnc/25555
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21408
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly11Glu
num of homozygotes: 0
population: South Asian
population: Other
reference allele: C

GenotypeQuality
all individuals: 13261
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3065
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1141
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.104544e6

QD
type: SiteQuality
SIO_000300: 1.299e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.71e-1

MQ
type: SiteQuality
SIO_000300: 5.994e1

FS
type: SiteQuality
SIO_000300: 4.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.186e0

MQRankSum
type: SiteQuality
SIO_000300: -9.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e-1

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

GenotypeQuality
all individuals: 3275
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1554
bin: 9.75e1
variant carriers: 3

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
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

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

African
type: Population
allele count: 3
allele frequency: 2.883506343713956e-4
allele num: 10404
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.407e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.31e-2

FS
type: SiteQuality
SIO_000300: 5.42e-1

DP
type: SiteQuality
SIO_000300: 2.104384e6

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.329e0

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3063
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.526e0

QD
type: SiteQuality
SIO_000300: 1.109e1

FS
type: SiteQuality
SIO_000300: 8.592000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.979e0

MQ
type: SiteQuality
SIO_000300: 5.867e1

DP
type: SiteQuality
SIO_000300: 2.104088e6

VQSLOD
type: SiteQuality
SIO_000300: -1.981e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

GenotypeQuality
all individuals: 1139
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3062
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1547
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
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: 10406
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.09e-1

QD
type: SiteQuality
SIO_000300: 1.522e1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.73e0

DP
type: SiteQuality
SIO_000300: 2.104e6

GenotypeQuality
all individuals: 37784
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 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: 66730
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.523e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.127e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 2.103818e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 10406
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.818e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

DP
type: SiteQuality
SIO_000300: 2.103741e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 1.844e0

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

QD
type: SiteQuality
SIO_000300: 1.399e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.87e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13267
bin: 6.75e1
variant carriers: 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: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.818e0

FS
type: SiteQuality
SIO_000300: 1.844e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.87e-1

DP
type: SiteQuality
SIO_000300: 2.103741e6

QD
type: SiteQuality
SIO_000300: 1.399e1

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

GenotypeQuality
all individuals: 3059
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37784
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 6.056201550387597e-5
allele num: 16512
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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.103392e6

FS
type: SiteQuality
SIO_000300: 3.086e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.03e-1

QD
type: SiteQuality
SIO_000300: 1.521e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 3059
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13267
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 8
allele frequency: 9.244280101687081e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
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

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

DP
type: SiteQuality
SIO_000300: 2.103774e6

QD
type: SiteQuality
SIO_000300: 1.363e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

GenotypeQuality
all individuals: 3279
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37793
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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: 6612
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: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 2.102606e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.401e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3056
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
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: 7.493330935467435e-5
allele num: 66726
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

DP
type: SiteQuality
SIO_000300: 2.10209e6

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.423e1

GenotypeQuality
all individuals: 3058
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 9.48e-1

FS
type: SiteQuality
SIO_000300: 8.717000000000001e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.101554e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.071e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 260
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variant carriers: 0

GenotypeQuality
all individuals: 263
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3055
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13268
bin: 6.75e1
variant carriers: 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: 11560
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South Asian
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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: 6612
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.903e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.024e0

VQSLOD
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.101242e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-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
all individuals: 37824
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GenotypeQuality
all individuals: 3056
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730403183941858e-4
allele num: 11558
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: 10
allele frequency: 1.498621268433042e-4
allele num: 66728
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 8
allele frequency: 4.845548152634767e-4
allele num: 16510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e0

QD
type: SiteQuality
SIO_000300: 1.36e1

VQSLOD
type: SiteQuality
SIO_000300: 5.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.101971e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 261
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 37855
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GenotypeQuality
all individuals: 3053
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496268097479092e-5
allele num: 66722
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.55e-1

DP
type: SiteQuality
SIO_000300: 2.100001e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.761e0

GenotypeQuality
all individuals: 1507
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1130
bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
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

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: 66728
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.701e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

DP
type: SiteQuality
SIO_000300: 2.098879e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 4.64e-1

FS
type: SiteQuality
SIO_000300: 4.44e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.953e0

QD
type: SiteQuality
SIO_000300: 8.7e-1

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 263
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13262
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37873
bin: 6.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.038e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

DP
type: SiteQuality
SIO_000300: 2.098691e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.503e0

QD
type: SiteQuality
SIO_000300: 1.511e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

GenotypeQuality
all individuals: 253
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1124
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13242
bin: 6.75e1
variant carriers: 0

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

Other
type: Population
allele count: 6
allele frequency: 6.63716814159292e-3
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 21
allele frequency: 3.176043557168784e-3
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 72
allele frequency: 4.36099333737129e-3
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 41
allele frequency: 3.548554613120997e-3
allele num: 11554
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 799
allele frequency: 1.197470175648942e-2
allele num: 66724
num of homozygotes: 4

African
type: Population
allele count: 20
allele frequency: 1.921968095329617e-3
allele num: 10406
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

FS
type: SiteQuality
SIO_000300: 5.82e-1

DP
type: SiteQuality
SIO_000300: 2.110654e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.441e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

GenotypeQuality
all individuals: 1139
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38401
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 9.75e1
variant carriers: 4

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028467595396729e-4
allele num: 16510
num of homozygotes: 1

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: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.24e-1

DP
type: SiteQuality
SIO_000300: 2.042347e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.419999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.811e0

QD
type: SiteQuality
SIO_000300: 1.754e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.331e0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13464
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.443e0

FS
type: SiteQuality
SIO_000300: 1.129e0

MQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.97e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 2.042013e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.314e0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3307
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13448
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 1

Other
type: Population
allele count: 5
allele frequency: 5.530973451327434e-3
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 265
allele frequency: 2.546607726311743e-2
allele num: 10406
num of homozygotes: 5

Latino
type: Population
allele count: 37
allele frequency: 3.203463203463203e-3
allele num: 11550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.090248334342823e-3
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 153
allele frequency: 2.292890540702554e-3
allele num: 66728
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.28e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.492e1

DP
type: SiteQuality
SIO_000300: 2.04768e6

VQSLOD
type: SiteQuality
SIO_000300: 7.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

GenotypeQuality
all individuals: 3333
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.332e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.46e0

DP
type: SiteQuality
SIO_000300: 2.018962e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.254e0

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3108
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3333
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 38683
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 4.043e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: 3.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.577e1

DP
type: SiteQuality
SIO_000300: 2.018869e6

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3107
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13555
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 38685
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 6
allele frequency: 8.99199712256092e-5
allele num: 66726
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: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

QD
type: SiteQuality
SIO_000300: 1.752e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.83e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

DP
type: SiteQuality
SIO_000300: 2.018528e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

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

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
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GenotypeQuality
all individuals: 3110
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e0

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.583e1

FS
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.452e0

DP
type: SiteQuality
SIO_000300: 2.017944e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.345e0

VQSLOD
type: SiteQuality
SIO_000300: -3.888e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 3329
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 10
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variant carriers: 0

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

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

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

Latino
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allele count: 1
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele frequency: 0.0e0
allele num: 8650
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European (Non-Finnish)
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allele frequency: 5.996821684507211e-5
allele num: 66702
num of homozygotes: 0

ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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VQSLOD
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QD
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FS
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 904
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European (Non-Finnish)
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allele count: 4
allele frequency: 5.997001499250375e-5
allele num: 66700
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Latino
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allele frequency: 8.656509695290859e-5
allele num: 11552
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African
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East Asian
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MQRankSum
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FS
type: SiteQuality
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DP
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MQ
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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ClippingRankSum
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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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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Other
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South Asian
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allele frequency: 6.056935190793458e-5
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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FS
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DP
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MQRankSum
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ClippingRankSum
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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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Other
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.499385252046661e-5
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African
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East Asian
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Latino
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num of homozygotes: 0

BaseQRankSum
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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DP
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MQRankSum
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QD
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ReadPosRankSum
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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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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
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Other
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allele frequency: 1.106194690265487e-3
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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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African
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allele frequency: 3.845414343395501e-4
allele num: 10402
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Latino
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East Asian
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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VQSLOD
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FS
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.499970000599988e-5
allele num: 66668
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South Asian
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Latino
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allele num: 11552
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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East Asian
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VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.668515950069348e-5
allele num: 11536
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MQ
type: SiteQuality
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MQRankSum
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FS
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QD
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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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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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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African
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South Asian
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Other
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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QD
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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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VQSLOD
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QD
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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DP
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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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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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Other
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South Asian
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African
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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FS
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DP
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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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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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East Asian
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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FS
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DP
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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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European (Non-Finnish)
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Other
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East Asian
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African
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Latino
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South Asian
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European (Finnish)
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

DP
type: SiteQuality
SIO_000300: 1.538746e6

QD
type: SiteQuality
SIO_000300: 1.052e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.716e0

GenotypeQuality
all individuals: 1000
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.057359173764556e-5
allele num: 48606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12784
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 1.048947e6

QD
type: SiteQuality
SIO_000300: 1.782e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.26e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 997
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5314
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: 9772
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.057189878625797e-5
allele num: 48610
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12776
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.921e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.28e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.442e0

DP
type: SiteQuality
SIO_000300: 1.047749e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.9e-1

QD
type: SiteQuality
SIO_000300: 9.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.806e-1

GenotypeQuality
all individuals: 2187
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.209817293929443e-5
allele num: 23754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.919e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.014e1

DP
type: SiteQuality
SIO_000300: 6.56057e5

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23914
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.027550711474417e-4
allele num: 6606
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2546
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.87e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.477e1

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.52e0

QD
type: SiteQuality
SIO_000300: 6.08e0

DP
type: SiteQuality
SIO_000300: 6.53415e5

GenotypeQuality
all individuals: 89
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2460
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 5.49019e5

QD
type: SiteQuality
SIO_000300: 1.658e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.52e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1220
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.27e-2

DP
type: SiteQuality
SIO_000300: 2.18209e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.368e0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.638e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: -1.035e0

QD
type: SiteQuality
SIO_000300: 3.52e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 711
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.942907592701589e-4
allele num: 3398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1224
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.22e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.12868e5

QD
type: SiteQuality
SIO_000300: 1.5e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 34
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1208
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.466e-1

MQ
type: SiteQuality
SIO_000300: 4.71e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

BaseQRankSum
type: SiteQuality
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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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1342
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 10
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East Asian
type: Population
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allele frequency: 0.0e0
allele num: 142
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.125e-2
allele num: 32
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 132
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South Asian
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allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.262e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1406
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.612903225806452e-3
allele num: 620
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 160
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Latino
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allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 10
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MQ
type: SiteQuality
SIO_000300: 5.042e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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DP
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
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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bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 1996
num of homozygotes: 0

East Asian
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allele frequency: 9.345794392523364e-3
allele num: 214
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 8.445945945945946e-4
allele num: 1184
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.18944e5

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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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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bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.553734061930783e-4
allele num: 2196
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1448
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.107e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.61e-2

QD
type: SiteQuality
SIO_000300: 1.194e1

MQ
type: SiteQuality
SIO_000300: 5.998e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.26156e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: -2.322e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2306
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 5.889281507656066e-4
allele num: 1698
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.28496e5

QD
type: SiteQuality
SIO_000300: 9.59e0

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

VQSLOD
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BaseQRankSum
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SIO_000300: 2.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.49e-1

MQ
type: SiteQuality
SIO_000300: 5.843e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.530000000000001e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3966
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2912
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 1.59442e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.22e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

European (Non-Finnish)
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allele count: 8
allele frequency: 4.705882352941176e-3
allele num: 1700
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

African
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allele count: 8
allele frequency: 1.568627450980392e-2
allele num: 510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 8.19672131147541e-4
allele num: 2440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.71e0

DP
type: SiteQuality
SIO_000300: 1.3714e5

MQ
type: SiteQuality
SIO_000300: 5.859e1

FS
type: SiteQuality
SIO_000300: 5.6288e1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -1.174e1

QD
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.166e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.29553264604811e-4
allele num: 2328
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.849e0

FS
type: SiteQuality
SIO_000300: 2.506e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.96e-2

MQ
type: SiteQuality
SIO_000300: 5.798e1

QD
type: SiteQuality
SIO_000300: 5.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.404e0

VQSLOD
type: SiteQuality
SIO_000300: -4.275e0

MQRankSum
type: SiteQuality
SIO_000300: -9.25e-1

DP
type: SiteQuality
SIO_000300: 1.15794e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 1.225490196078431e-3
allele num: 4080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 6.91e0

VQSLOD
type: SiteQuality
SIO_000300: -1.239e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.75e-2

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.426e1

MQRankSum
type: SiteQuality
SIO_000300: -6.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.1943e5

GenotypeQuality
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bin: 1.25e1
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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

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

South Asian
type: Population
allele count: 60
allele frequency: 1.184834123222749e-2
allele num: 5064
num of homozygotes: 3

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 970
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.226e1

FS
type: SiteQuality
SIO_000300: 4.353e0

DP
type: SiteQuality
SIO_000300: 1.62281e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.825e-1

InbreedingCoeff
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SIO_000300: -7.829999999999999e-2

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.716981132075472e-3
allele num: 212
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 256
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Other
type: Population
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African
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allele count: 15
allele frequency: 1.376146788990826e-2
allele num: 1090
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3700
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.31e-1

BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.906e1

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 5.076142131979696e-4
allele num: 1970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 168
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FS
type: SiteQuality
SIO_000300: 4.39e0

InbreedingCoeff
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SIO_000300: -7.69e-2

ClippingRankSum
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SIO_000300: -1.926e0

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.769e1

ReadPosRankSum
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SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 2.88893e5

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.59e1

GenotypeDepth
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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.497454327643007e-4
allele num: 6678
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7686
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.835e0

QD
type: SiteQuality
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MQRankSum
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SIO_000300: -9.97e-1

ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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VQSLOD
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SIO_000300: -2.184e0

InbreedingCoeff
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SIO_000300: -7.35e-2

ClippingRankSum
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SIO_000300: -1.468e0

GenotypeDepth
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variant carriers: 0

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

Other
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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: 1
allele frequency: 1.391982182628062e-4
allele num: 7184
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 576
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.96e-2

FS
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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SIO_000300: -1.532e0

ReadPosRankSum
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SIO_000300: -4.66e-1

QD
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SIO_000300: 8.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
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SIO_000300: 3.47479e5

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.372872048325096e-4
allele num: 7284
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

MQRankSum
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BaseQRankSum
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SIO_000300: 1.89e-1

QD
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FS
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.959e1

VQSLOD
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ReadPosRankSum
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SIO_000300: -1.388e0

InbreedingCoeff
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SIO_000300: -6.859999999999999e-2

DP
type: SiteQuality
SIO_000300: 3.5395e5

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2446
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.277465508431272e-4
allele num: 7828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7390
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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MQ
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SIO_000300: 5.858e1

VQSLOD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 3.53e-1

DP
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QD
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GenotypeDepth
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variant carriers: 2

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 3.833375926399182e-4
allele num: 7826
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 400
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7540
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MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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FS
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DP
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QD
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GenotypeDepth
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variant carriers: 1

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.316135825217162e-4
allele num: 7598
num of homozygotes: 0

South Asian
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num of homozygotes: 0

East Asian
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African
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Other
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FS
type: SiteQuality
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MQRankSum
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QD
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ClippingRankSum
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MQ
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 630
num of homozygotes: 0

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

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

European (Finnish)
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Other
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Latino
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South Asian
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allele num: 7730
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DP
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QD
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BaseQRankSum
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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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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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7406
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7562
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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DP
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SIO_000300: 3.13974e5

ClippingRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

InbreedingCoeff
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SIO_000300: -7.820000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.968e1

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

African
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allele frequency: 0.0e0
allele num: 2424
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.396258028483664e-4
allele num: 7162
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 370
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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QD
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DP
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SIO_000300: 2.91995e5

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -7.96e-2

FS
type: SiteQuality
SIO_000300: 1.7458e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 2356
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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: 7
allele frequency: 1.010976314269209e-3
allele num: 6924
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.94e-2

DP
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SIO_000300: 2.722e5

BaseQRankSum
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SIO_000300: -1.361e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

MQRankSum
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.94e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2320
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6764
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.483679525222552e-4
allele num: 6740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.883e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.95e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.60292e5

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.805054151624549e-3
allele num: 554
num of homozygotes: 0

Other
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num of homozygotes: 0

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

African
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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
allele num: 354
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.623e0

DP
type: SiteQuality
SIO_000300: 2.44983e5

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.85e-2

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.831501831501832e-3
allele num: 546
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.327e1

InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
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num of homozygotes: 0

Other
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