9-139699901-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139699901
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139699901
    reference: chr 9
allele count: 1
allele frequency: 8.714141308515458e-6
allele num: 114756
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.938C>G
  hgvsp: ENSP00000419222.1:p.Ser313Ter
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.940C>G
  hgvsp: ENSP00000338013.6:p.His314Asp
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1146-629C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1257C>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+2663C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.864G>C
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.576C>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.88C>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.978C>G
  variant of: http://identifiers.org/hgnc/28236
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4790
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser313Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

9-139699903-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139699903
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139699903
    reference: chr 9
allele count: 38
allele frequency: 3.321387990560266e-4
allele num: 114410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.942C>T
  hgvsp: ENST00000338005.6:c.942C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+2665C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1259C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.862G>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.90C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.578C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.980C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.940C>T
  hgvsp: ENSP00000419222.1:p.Arg314Cys
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1146-627C>T
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36464
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11251
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg314Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

9-139699904-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139699904
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139699904
    reference: chr 9
allele count: 5
allele frequency: 4.374835943652113e-5
allele num: 114290
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.943G>A
  hgvsp: ENSP00000338013.6:p.Val315Ile
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1146-626G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.91G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+2666G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.579G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.981G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.861C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.941G>A
  hgvsp: ENSP00000419222.1:p.Arg314His
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1260G>A
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36251
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val315Ile
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

9-139699923-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139699923
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139699923
    reference: chr 9
allele count: 13
allele frequency: 1.181109516108517e-4
allele num: 110066
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.842G>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.986+14C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1146-607C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1265+14C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.96+14C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.946+14C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+2685C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.584+14C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.948+14C>T
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11563
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26461
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3007
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

9-139699924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139699924
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139699924
    reference: chr 9
allele count: 57
allele frequency: 5.188138277538092e-4
allele num: 109866
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.841C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.584+15G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.986+15G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1146-606G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1265+15G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.96+15G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+2686G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.946+15G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.948+15G>A
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9172
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4830
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25772
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12095
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

9-139699926-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139699926
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139699926
    reference: chr 9
allele count: 1
allele frequency: 9.132920525325589e-6
allele num: 109494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.946+17T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1265+17T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.948+17T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+2688T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.986+17T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.584+17T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1146-604T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.839A>G
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.96+17T>C
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/9-139699929-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139699929
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139699929
    reference: chr 9
allele count: 1
allele frequency: 9.208272712204645e-6
allele num: 108598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1265+20C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.946+20C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.948+20C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1146-601C>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+2691C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.584+20C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.986+20C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.96+20C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.836G>T
  variant of: http://identifiers.org/hgnc/44105
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13686
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

9-139699936-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139699936
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139699936
    reference: chr 9
allele count: 1
allele frequency: 9.261488876951858e-6
allele num: 107974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.584+27T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+2698T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.96+27T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1146-594T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.986+27T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.946+27T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.829A>G
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.948+27T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1265+27T>C
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16568
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

9-139699953-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139699953
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139699953
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 101410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1265+44A>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+2715A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.96+44A>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.948+44A>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.812T>C
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.946+44A>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1146-577A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.986+44A>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.584+44A>G
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7851
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

9-139700500-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700500
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700500
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 17376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.947-30A>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3262A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1146-30A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.949-30A>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1266-30A>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.97-30A>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.728+2T>C
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.987-30A>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.585-30A>G
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: splice donor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29720
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23597
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5853
  bin: 2.5e0
  variant carriers: 0
hgvs: n.728+2T>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

9-139700519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700519
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700519
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 18508
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3281G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.949-11G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.947-11G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.987-11G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1266-11G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.97-11G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.585-11G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.711C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1146-11G>A
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28877
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

9-139700524-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700524
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700524
    reference: chr 9
allele count: 1
allele frequency: 5.272593061267531e-5
allele num: 18966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.987-6G>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.949-6G>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.947-6G>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1266-6G>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1146-6G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.97-6G>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3286G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.585-6G>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.706C>G
  variant of: http://identifiers.org/hgnc/44105
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31769
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
hgvs: c.949-6G>C
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

9-139700524-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700524
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700524
    reference: chr 9
allele count: 1
allele frequency: 5.272593061267531e-5
allele num: 18966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1266-6G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.947-6G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3286G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.585-6G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.987-6G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1146-6G>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.706C>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.949-6G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.97-6G>T
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31769
  bin: 7.5e0
  variant carriers: 0
hgvs: c.949-6G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

9-139700535-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700535
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700535
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 19476
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.695G>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3297C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1151C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.992C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.102C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.590C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1271C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.954C>T
  hgvsp: ENST00000338005.6:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.952C>T
  hgvsp: ENSP00000419222.1:p.His318Tyr
  variant of: http://identifiers.org/hgnc/28236
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36055
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His318Tyr
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: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

9-139700541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700541
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700541
    reference: chr 9
allele count: 1
allele frequency: 5.06380392951185e-5
allele num: 19748
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.960C>T
  hgvsp: ENST00000338005.6:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3303C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.689G>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.998C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1157C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*1C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.108C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1277C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.596C>T
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser320Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum

9-139700543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700543
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700543
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 19900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*3G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.687C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.598G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3305G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1000G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.962G>A
  hgvsp: ENSP00000338013.6:p.Arg321His
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1159G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1279G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.110G>A
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg321His
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/9-139700562-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700562
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700562
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 20456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1298C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.129C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.617C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.668G>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.981C>A
  hgvsp: ENSP00000338013.6:p.Asn327Lys
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1019C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1178C>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3324C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*22C>A
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10186
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn327Lys
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

9-139700576-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700576
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700576
    reference: chr 9
allele count: 2
allele frequency: 9.512937595129375e-5
allele num: 21024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.143T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1312T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.654A>G
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3338T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1033T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1192T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*36T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.995T>C
  hgvsp: ENSP00000338013.6:p.Leu332Pro
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.631T>C
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15547
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30774
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu332Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

9-139700590-GAGGACTGTGAGGAGTGGCGGGTGCAGCTGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700590
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700560
    reference: chr 9
allele count: 4
allele frequency: 1.81257930034439e-4
allele num: 22068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsp: ENSP00000338013.6:p.Asp338_Lys347del
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21166
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25503
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27683
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp338_Lys347del
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: GAGGACTGTGAGGAGTGGCGGGTGCAGCTGA
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

9-139700593-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700593
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700593
    reference: chr 9
allele count: 1
allele frequency: 4.438132433871826e-5
allele num: 22532
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3355G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1209G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*53G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1012G>A
  hgvsp: ENSP00000338013.6:p.Asp338Asn
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1050G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1329G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-13C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.160G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.648G>A
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24751
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp338Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

9-139700605-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700605
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700605
    reference: chr 9
allele count: 28333
allele frequency: 8.370657055069723e-1
allele num: 33848
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1221T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.660T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3367T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*65T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1024T>C
  hgvsp: ENSP00000338013.6:p.Trp342Arg
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-25A>G
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1341T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.172T>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1062T>C
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.75e1
  variant carriers: 435
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.25e1
  variant carriers: 561
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.75e1
  variant carriers: 243
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.25e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 10371
  bin: 2.5e0
  variant carriers: 8423
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.75e1
  variant carriers: 535
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 614
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.25e1
  variant carriers: 350
genotype depth: GenotypeDepth
  all individuals: 24263
  bin: 7.5e0
  variant carriers: 21963
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.75e1
  variant carriers: 630
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 9.75e1
  variant carriers: 2100
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.25e1
  variant carriers: 398
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 473
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 638
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 1.25e1
  variant carriers: 6188
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 553
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.75e1
  variant carriers: 805
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 673
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 670
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 698
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 3.25e1
  variant carriers: 2780
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 4.75e1
  variant carriers: 679
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.75e1
  variant carriers: 343
genotype quality: GenotypeQuality
  all individuals: 4371
  bin: 1.25e1
  variant carriers: 4278
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 2.5e0
  variant carriers: 287
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 2.75e1
  variant carriers: 2409
hgvs: p.Trp342Arg
num of homozygotes: 11739
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

9-139700606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700606
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700606
    reference: chr 9
allele count: 6
allele frequency: 2.861503243037009e-4
allele num: 20968
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3368G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.661G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*66G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1063G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-26C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1025G>A
  hgvsp: ENSP00000338013.6:p.Trp342Ter
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1222G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1342G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.173G>A
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15945
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21627
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp342Ter
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

9-139700608-C-CGGGGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700608
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700614
    reference: chr 9
allele count: 1
allele frequency: 4.712091226086137e-5
allele num: 21222
alternate allele: CGGGGGG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*71_*72insGGGGGG
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.666_667insGGGGGG
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1347_1348insGGGGGG
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-29_650-28insCCCCCC
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.178_179insGGGGGG
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1068_1069insGGGGGG
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1030_1031insGGGGGG
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1227_1228insGGGGGG
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20907
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7311
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg343_Val344insGlyGly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

9-139700608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700608
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700608
    reference: chr 9
allele count: 4
allele frequency: 1.884836490434455e-4
allele num: 21222
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-28G>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*68C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1065C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3370C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.175C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1027C>T
  hgvsp: ENSP00000338013.6:p.Arg343Trp
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.663C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1344C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1224C>T
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15285
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20907
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7311
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24944
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg343Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

9-139700609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700609
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700609
    reference: chr 9
allele count: 1
allele frequency: 4.609144542772861e-5
allele num: 21696
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1225G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1028G>A
  hgvsp: ENSP00000338013.6:p.Arg343Gln
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1066G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.176G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3371G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.664G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*69G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1345G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-29C>T
  variant of: http://identifiers.org/hgnc/44105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22652
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg343Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

9-139700611-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700611
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700611
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 22448
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-31C>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.178G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.666G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1347G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1030G>T
  hgvsp: ENSP00000338013.6:p.Val344Leu
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1068G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3373G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*71G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1227G>T
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24447
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val344Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

9-139700612-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700612
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700612
    reference: chr 9
allele count: 803
allele frequency: 4.8420164013507e-2
allele num: 16584
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1031T>G
  hgvsp: ENSP00000338013.6:p.Val344Gly
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.179T>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1069T>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1228T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1348T>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.667T>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-32A>C
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*72T>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3374T>G
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 2.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 28392
  bin: 2.5e0
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 2.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 12904
  bin: 7.5e0
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.25e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.75e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 21094
  bin: 7.5e0
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 6.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 6.25e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 9.25e1
  variant carriers: 25
hgvs: p.Val344Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

9-139700613-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700613
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700613
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 20994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.180G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1070G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*73G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1349G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3375G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1032G>A
  hgvsp: ENST00000338005.6:c.1032G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-33C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1229G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.668G>A
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31094
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11537
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4771
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val344Val
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

9-139700613-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700613
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700613
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 20994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.668G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1229G>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-33C>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*73G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1349G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1032G>T
  hgvsp: ENST00000338005.6:c.1032G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1070G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.180G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3375G>T
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11537
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31094
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4771
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Val344Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

9-139700614-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700614
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700614
    reference: chr 9
allele count: 20
allele frequency: 9.881422924901185e-4
allele num: 20240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1350C>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1230C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3376C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-34G>C
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1033C>G
  hgvsp: ENSP00000338013.6:p.Gln345Glu
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.181C>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1071C>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*74C>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.669C>G
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31712
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11475
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 27782
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Gln345Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

9-139700614-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700614
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700614
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 20240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*74C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.669C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1230C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3376C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1350C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.181C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1071C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1033C>T
  hgvsp: ENSP00000338013.6:p.Gln345Ter
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-34G>A
  variant of: http://identifiers.org/hgnc/44105
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31712
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4689
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln345Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/9-139700614-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700614
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700614
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 20240
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1230C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1033C>A
  hgvsp: ENSP00000338013.6:p.Gln345Lys
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.669C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.181C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-34G>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1350C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*74C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3376C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1071C>A
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31712
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11475
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27782
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Gln345Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

9-139700615-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700615
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700615
    reference: chr 9
allele count: 20
allele frequency: 9.629272989889263e-4
allele num: 20770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*75A>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1034A>G
  hgvsp: ENSP00000338013.6:p.Gln345Arg
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3377A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1072A>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1351A>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.182A>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1231A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.670A>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-35T>C
  variant of: http://identifiers.org/hgnc/44105
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11526
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4963
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln345Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

9-139700616-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700616
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700616
    reference: chr 9
allele count: 1
allele frequency: 4.791107704101189e-5
allele num: 20872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1073G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-36C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3378G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1035G>A
  hgvsp: ENST00000338005.6:c.1035G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*76G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1352G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.183G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1232G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.671G>A
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32631
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29724
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5780
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln345Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

9-139700629-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700629
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700629
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 21492
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1245G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1048G>T
  hgvsp: ENSP00000338013.6:p.Val350Leu
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.684G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3391G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1086G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*89G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.196G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1365G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-49C>A
  variant of: http://identifiers.org/hgnc/44105
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19779
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27712
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val350Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-139700638-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700638
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700638
    reference: chr 9
allele count: 1
allele frequency: 4.472271914132379e-5
allele num: 22360
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1254C>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-58G>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1057C>A
  hgvsp: ENSP00000338013.6:p.Leu353Met
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1374C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*98C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.693C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1095C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.5C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.205C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3400C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21562
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24526
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu353Met
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

9-139700656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700656
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700656
    reference: chr 9
allele count: 6
allele frequency: 2.312673450508788e-4
allele num: 25944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1113G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.711G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.23G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-76C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*116G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1272G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.223G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3418G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1075G>A
  hgvsp: ENSP00000338013.6:p.Val359Met
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1392G>A
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34000
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val359Met
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-139700659-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700659
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700659
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 26888
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1275C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.226C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.714C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1078C>T
  hgvsp: ENSP00000338013.6:p.Leu360Phe
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3421C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1116C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*119C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.26C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1395C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-79G>A
  variant of: http://identifiers.org/hgnc/44105
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34708
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11181
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu360Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

9-139700668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700668
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700668
    reference: chr 9
allele count: 2
allele frequency: 6.793939805693321e-5
allele num: 29438
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1087C>T
  hgvsp: ENSP00000338013.6:p.Arg363Cys
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1284C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1125C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1404C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*128C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.723C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-88G>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.35C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3430C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.235C>T
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9408
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35543
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9240
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg363Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

9-139700669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700669
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700669
    reference: chr 9
allele count: 2
allele frequency: 6.698821007502679e-5
allele num: 29856
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1088G>A
  hgvsp: ENSP00000338013.6:p.Arg363His
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*129G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-89C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.724G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1126G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.236G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3431G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1405G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.36G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1285G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35544
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9052
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg363His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-139700669-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700669
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700669
    reference: chr 9
allele count: 1
allele frequency: 3.34941050375134e-5
allele num: 29856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1126G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.36G>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1285G>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-89C>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1088G>T
  hgvsp: ENSP00000338013.6:p.Arg363Leu
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*129G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3431G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1405G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.724G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.236G>T
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35544
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9052
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg363Leu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

9-139700682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700682
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700682
    reference: chr 9
allele count: 3
allele frequency: 9.453582907922102e-5
allele num: 31734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.249C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3444C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.49C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1101C>T
  hgvsp: ENST00000338005.6:c.1101C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-102G>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*142C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1418C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.737C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1139C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1298C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser367Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

9-139700690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700690
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700690
    reference: chr 9
allele count: 9
allele frequency: 2.864782276546983e-4
allele num: 31416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*150G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.745G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3452G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1306G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1109G>A
  hgvsp: ENSP00000338013.6:p.Ser370Asn
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.257G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1147G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-110C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1426G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.57G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33600
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser370Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

9-139700696-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700696
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700696
    reference: chr 9
allele count: 1
allele frequency: 3.229765519023319e-5
allele num: 30962
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-116G>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1153C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.751C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.63C>T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1109+6C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1432C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.257+6C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1312C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3458C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*150+6C>T
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1109+6C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

9-139700697-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700697
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700697
    reference: chr 9
allele count: 2
allele frequency: 6.446621970087674e-5
allele num: 31024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1154C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.752C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.64C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1313C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-117G>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1433C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*150+7C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1109+7C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.257+7C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3459C>T
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32472
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4574
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1109+7C>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

9-139700705-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700705
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700705
    reference: chr 9
allele count: 2
allele frequency: 6.647610184138802e-5
allele num: 30086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1162C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.257+15C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1441C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-125G>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*150+15C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.72C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1109+15C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1321C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.760C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3467C>T
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30972
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

9-139700706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700706
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700706
    reference: chr 9
allele count: 1
allele frequency: 3.311477581296774e-5
allele num: 30198
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1322G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.761G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.257+16G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1442G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.73G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3468G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-126C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*150+16G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1163G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1109+16G>A
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

9-139700708-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700708
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700708
    reference: chr 9
allele count: 3
allele frequency: 9.878169245966414e-5
allele num: 30370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*150+18G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.257+18G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.763G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1165G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.650-128C>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.75G>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1324G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1444G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1109+18G>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3470G>T
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12920
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

9-139700712-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700712
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700712
    reference: chr 9
allele count: 1
allele frequency: 3.353229159680773e-5
allele num: 29822
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1328G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.649+125C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3474G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.767G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.79G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.257+22G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*150+22G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1169G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1448G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1109+22G>A
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7906
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13826
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
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: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

9-139700713-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700713
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700713
    reference: chr 9
allele count: 5
allele frequency: 1.709284835224942e-4
allele num: 29252
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1329C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.257+23C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3475C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.80C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1170C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.768C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1109+23C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*150+23C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.649+124G>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1449C>T
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-139700714-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700714
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700714
    reference: chr 9
allele count: 1
allele frequency: 3.378150124991554e-5
allele num: 29602
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.649+123C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.257+24G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1450G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1330G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3476G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.81G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1109+24G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1171G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*150+24G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.769G>A
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30183
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13897
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ

9-139700715-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700715
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700715
    reference: chr 9
allele count: 2
allele frequency: 6.720881779689495e-5
allele num: 29758
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3477G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.770G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1451G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.257+25G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1331G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*150+25G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.82G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1109+25G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.649+122C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1172G>A
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14049
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/9-139700717-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700717
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700717
    reference: chr 9
allele count: 554
allele frequency: 1.897130333538799e-2
allele num: 29202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1453C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1333C>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.649+120G>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.772C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1174C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*150+27C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.84C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.257+27C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1109+27C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3479C>A
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14506
  bin: 2.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 1.75e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 1.25e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 29515
  bin: 7.5e0
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 2.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 2.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 14963
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 25879
  bin: 2.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 3.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 19
num of homozygotes: 16
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

9-139700720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700720
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700720
    reference: chr 9
allele count: 1
allele frequency: 3.404603023287484e-5
allele num: 29372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.649+117G>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1456C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1177C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.775C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.257+30C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1336C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3482C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.87C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*150+30C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1109+30C>T
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14829
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15465
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-139700726-CCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700726
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700724
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 28608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.94_95delCA
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1343_1344delCA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.782_783delCA
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1463_1464delCA
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*150+37_*150+38delCA
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1184_1185delCA
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.257+37_257+38delCA
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1109+37_1109+38delCA
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.649+109_649+110delTG
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3489_251+3490delCA
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28857
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: CCA
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

9-139700909-TCTCGGGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700909
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700902
    reference: chr 9
allele count: 1
allele frequency: 8.538834619851082e-6
allele num: 117112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.967_973delCGGGCCT
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1648_1654delCGGGCCT
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1528_1534delCGGGCCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.258-44_258-38delCGGGCCT
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.570_576delGCCCGAG
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1110-44_1110-38delCGGGCCT
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*151-44_*151-38delCGGGCCT
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1369_1375delCGGGCCT
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.279_285delCGGGCCT
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: TCTCGGGC
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

9-139700912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700912
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700912
    reference: chr 9
allele count: 4
allele frequency: 3.420382056675731e-5
allele num: 116946
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3674C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*151-44C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.967C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.574G>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.258-44C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1110-44C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1369C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.279C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1528C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1648C>T
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13464
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15057
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

9-139700913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700913
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700913
    reference: chr 9
allele count: 62
allele frequency: 5.29461998292058e-4
allele num: 117100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.968G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*151-43G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3675G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.280G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1370G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.258-43G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.573C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1649G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1110-43G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1529G>A
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 15957
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13733
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9296
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

9-139700927-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700927
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700927
    reference: chr 9
allele count: 1
allele frequency: 8.496609852668785e-6
allele num: 117694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*151-29C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1110-29C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.982C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.294C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1384C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1543C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.258-29C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1663C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.559G>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3689C>T
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

9-139700934-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700934
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700934
    reference: chr 9
allele count: 1
allele frequency: 8.471704506946798e-6
allele num: 118040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1391G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1110-22G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*151-22G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.989G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.301G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.258-22G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3696G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1670G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.552C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1550G>A
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15771
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8281
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/9-139700939-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700939
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700939
    reference: chr 9
allele count: 1
allele frequency: 8.458662516282926e-6
allele num: 118222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.306C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.258-17C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*151-17C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.547G>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.994C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1396C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1675C>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1555C>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3701C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1110-17C>A
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15998
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22762
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ

9-139700950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700950
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700950
    reference: chr 9
allele count: 6
allele frequency: 5.05671953747872e-5
allele num: 118654
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1110-6C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1686C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.1005C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1407C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*151-6C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.258-6C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1566C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3712C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.536G>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.317C>T
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19991
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16386
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10727
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7759
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5071
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1110-6C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-139700960-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700960
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700960
    reference: chr 9
allele count: 1
allele frequency: 8.404773911581778e-6
allele num: 118980
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3722A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1696A>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*155A>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.327A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1417A>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1114A>C
  hgvsp: ENSP00000338013.6:p.Lys372Gln
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.526T>G
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1576A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.262A>C
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.1015A>C
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16799
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4059
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7773
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys372Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

9-139700966-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700966
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700966
    reference: chr 9
allele count: 2
allele frequency: 1.678781875870868e-5
allele num: 119134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1702G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.1021G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.520C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1582G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3728G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.333G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1120G>A
  hgvsp: ENSP00000338013.6:p.Val374Ile
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*161G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.268G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000371682
  gene symbol: CCDC183
  hgvsc: ENST00000371682.3:n.1423G>A
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val374Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

9-139700982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700982
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700982
    reference: chr 9
allele count: 3
allele frequency: 2.510502267820382e-5
allele num: 119498
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1598C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1718C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1136C>T
  hgvsp: ENSP00000338013.6:p.Thr379Ile
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.349C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.504G>A
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.1037C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*177C>T
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3744C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.284C>T
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr379Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

9-139700986-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700986
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700986
    reference: chr 9
allele count: 1
allele frequency: 8.365260745177427e-6
allele num: 119542
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1602C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3748C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1140C>G
  hgvsp: ENSP00000338013.6:p.Asp380Glu
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.353C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.500G>C
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*181C>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1722C>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.1041C>G
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.288C>G
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23517
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4066
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp380Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

9-139700998-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700998
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700998
    reference: chr 9
allele count: 11
allele frequency: 9.187798603454613e-5
allele num: 119724
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.497-9C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1152G>A
  hgvsp: ENST00000338005.6:c.1152G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.365G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.1053G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.300G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1614G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*193G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1734G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3760G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19323
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11002
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17532
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu384Glu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

9-139700999-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139700999
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139700999
    reference: chr 9
allele count: 1
allele frequency: 8.352683717278361e-6
allele num: 119722
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1153G>A
  hgvsp: ENSP00000338013.6:p.Glu385Lys
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.497-10C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.301G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.366G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*194G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.1054G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1615G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3761G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1735G>A
  variant of: http://identifiers.org/hgnc/28236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4075
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu385Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-139701005-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139701005
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139701005
    reference: chr 9
allele count: 1
allele frequency: 8.349057391420508e-6
allele num: 119774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000496839
  gene symbol: CCDC183
  hgvsc: ENST00000496839.1:n.307G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000338013
  ensembl transcript: ENST00000338005
  gene symbol: CCDC183
  hgvsc: ENST00000338005.6:c.1159G>A
  hgvsp: ENSP00000338013.6:p.Glu387Lys
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213213
  ensembl protein: ENSP00000419222
  ensembl transcript: ENST00000479371
  gene symbol: CCDC183
  hgvsc: ENST00000479371.1:c.*200G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228544
  ensembl transcript: ENST00000414656
  gene symbol: CCDC183-AS1
  hgvsc: ENST00000414656.1:n.497-16C>T
  variant of: http://identifiers.org/hgnc/44105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000415992
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000415992.1:n.1621G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000430612
  gene symbol: CCDC183
  hgvsc: ENST00000430612.1:n.1741G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.372G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213213
  ensembl transcript: ENST00000481601
  gene symbol: CCDC183
  hgvsc: ENST00000481601.1:n.1060G>A
  variant of: http://identifiers.org/hgnc/28236
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272679
  ensembl transcript: ENST00000471502
  gene symbol: RP11-216L13.18
  hgvsc: ENST00000471502.1:n.251+3767G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu387Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

9-139701005-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139701005
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 139701005
    reference: chr 9
allele count: 1
allele frequency: 8.349057391420508e-6
allele num: 119774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000273066
  ensembl transcript: ENST00000459985
  gene symbol: RP11-216L13.19
  hgvsc: ENST00000459985.1:n.372G>C
canonical: true
consequence: missense
filter: PASS
hgvs: p.Glu387Gln
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43799
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10896
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.457445434586077e-5
allele num: 15486
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.422463e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.723e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.33e0

VQSLOD
type: SiteQuality
SIO_000300: -2.225e0

GenotypeQuality
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bin: 3.75e1
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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bin: 9.75e1
variant carriers: 38

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 3620
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.208313194780087e-4
allele num: 8276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63934
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

African
type: Population
allele count: 37
allele frequency: 4.057017543859649e-3
allele num: 9120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.85e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.417626e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.381e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10816
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.196354052273227e-4
allele num: 9106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63890
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.942753529335578e-4
allele num: 15442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5934
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

DP
type: SiteQuality
SIO_000300: 1.41388e6

MQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

QD
type: SiteQuality
SIO_000300: 1.388e1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.22e-1

GenotypeQuality
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bin: 9.25e1
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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variant carriers: 12

GenotypeQuality
all individuals: 777
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5626
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 8.001066808907855e-4
allele num: 14998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.616292225634395e-5
allele num: 61870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

DP
type: SiteQuality
SIO_000300: 1.287708e6

QD
type: SiteQuality
SIO_000300: 1.323e1

FS
type: SiteQuality
SIO_000300: 1.562e0

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 58

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.618280091918309e-5
allele num: 61794
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.987452698665605e-4
allele num: 10042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

African
type: Population
allele count: 53
allele frequency: 6.054375142791867e-3
allele num: 8754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.655e0

VQSLOD
type: SiteQuality
SIO_000300: 5.8e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 1.279253e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.147842056932966e-4
allele num: 8712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61650
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.51e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.285e0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 2.599e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 1.255533e6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14822
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7822
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 6.061e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.457e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.14e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

DP
type: SiteQuality
SIO_000300: 1.218445e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-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: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7778
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.787944610371979e-5
allele num: 14732
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.188747e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.493e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.613e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2493
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variant carriers: 1

GenotypeQuality
all individuals: 1748
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57834
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14022
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.106241e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -2.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.380000000000001e0

GenotypeQuality
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bin: 7.75e1
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
all individuals: 1071
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GenotypeQuality
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GenotypeQuality
all individuals: 189
bin: 8.25e1
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GenotypeQuality
all individuals: 257
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.23e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.90736e5

QD
type: SiteQuality
SIO_000300: 1.077e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.35412e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.09e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
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SIO_000300: 7.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -2.603e0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.190759704691593e-4
allele num: 8398
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.034e0

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

FS
type: SiteQuality
SIO_000300: 4.683e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.95e-2

QD
type: SiteQuality
SIO_000300: 9.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 3.51698e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.789272030651341e-4
allele num: 2088
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.683e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.034e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

QD
type: SiteQuality
SIO_000300: 9.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.95e-2

DP
type: SiteQuality
SIO_000300: 3.51698e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.820000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 3.75585e5

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: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Non-Finnish)
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: 190
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 1.297016861219196e-4
allele num: 7710
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.89596e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.454e0

MQRankSum
type: SiteQuality
SIO_000300: -8.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-2

QD
type: SiteQuality
SIO_000300: 1.019e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.981e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8714
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.97942e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.57e-2

GenotypeQuality
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bin: 6.75e1
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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bin: 7.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 424
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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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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QD
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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SIO_000300: 7.42e-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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variant carriers: 0

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

South Asian
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allele frequency: 2.503755633450175e-4
allele num: 7988
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

Other
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allele num: 192
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
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VQSLOD
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QD
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DP
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InbreedingCoeff
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MQRankSum
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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
all individuals: 481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 4.022526146419951e-4
allele num: 9944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.22e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-2

FS
type: SiteQuality
SIO_000300: 1.7533e1

VQSLOD
type: SiteQuality
SIO_000300: -9.545e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

DP
type: SiteQuality
SIO_000300: 5.10996e5

QD
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.294e0

GenotypeQuality
all individuals: 1482
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.237011380504701e-4
allele num: 8084
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.24e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

FS
type: SiteQuality
SIO_000300: 1.0701e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.21e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.891e0

MQ
type: SiteQuality
SIO_000300: 5.796e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.392e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 5.17712e5

GenotypeQuality
all individuals: 562
bin: 6.25e1
variant carriers: 382

GenotypeQuality
all individuals: 11422
bin: 9.75e1
variant carriers: 11386

GenotypeQuality
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variant carriers: 3836

GenotypeQuality
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bin: 2.25e1
variant carriers: 6672

GenotypeQuality
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bin: 5.25e1
variant carriers: 630

GenotypeQuality
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bin: 1.75e1
variant carriers: 8887

GenotypeQuality
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bin: 3.75e1
variant carriers: 1362

GenotypeQuality
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bin: 5.75e1
variant carriers: 556

GenotypeQuality
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bin: 8.25e1
variant carriers: 497

GenotypeQuality
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bin: 4.25e1
variant carriers: 525

GenotypeQuality
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bin: 9.25e1
variant carriers: 500

GenotypeQuality
all individuals: 422
bin: 6.75e1
variant carriers: 384

GenotypeQuality
all individuals: 545
bin: 8.75e1
variant carriers: 545

GenotypeQuality
all individuals: 245
bin: 7.25e1
variant carriers: 235

European (Non-Finnish)
type: Population
allele count: 14276
allele frequency: 8.140967153284672e-1
allele num: 17536
num of homozygotes: 5686

East Asian
type: Population
allele count: 1557
allele frequency: 8.816534541336354e-1
allele num: 1766
num of homozygotes: 678

African
type: Population
allele count: 2988
allele frequency: 9.601542416452442e-1
allele num: 3112
num of homozygotes: 1432

Latino
type: Population
allele count: 1480
allele frequency: 8.052230685527747e-1
allele num: 1838
num of homozygotes: 581

European (Finnish)
type: Population
allele count: 396
allele frequency: 8.53448275862069e-1
allele num: 464
num of homozygotes: 165

Other
type: Population
allele count: 225
allele frequency: 8.458646616541353e-1
allele num: 266
num of homozygotes: 97

South Asian
type: Population
allele count: 7411
allele frequency: 8.358899165350778e-1
allele num: 8866
num of homozygotes: 3100

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.534e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 2.683e1

DP
type: SiteQuality
SIO_000300: 1.03108e6

MQ
type: SiteQuality
SIO_000300: 5.652e1

FS
type: SiteQuality
SIO_000300: 1.094e0

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

GenotypeQuality
all individuals: 9516
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2845
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1087
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 8.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.373626373626374e-3
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 1.327433628318584e-3
allele num: 2260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.157497303128371e-4
allele num: 9270
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.422e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.171e-1

DP
type: SiteQuality
SIO_000300: 6.80631e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 5.787e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.05e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.06e-1

QD
type: SiteQuality
SIO_000300: 1.631e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

GenotypeQuality
all individuals: 366
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24944
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
all individuals: 3552
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GenotypeQuality
all individuals: 4195
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variant carriers: 0

GenotypeQuality
all individuals: 400
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variant carriers: 0

GenotypeQuality
all individuals: 98
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GenotypeQuality
all individuals: 200
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GenotypeQuality
all individuals: 204
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GenotypeQuality
all individuals: 183
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GenotypeQuality
all individuals: 518
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variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.063829787234043e-4
allele num: 9400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 1.0816e2

MQ
type: SiteQuality
SIO_000300: 5.705e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.556e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

QD
type: SiteQuality
SIO_000300: 1.027e1

VQSLOD
type: SiteQuality
SIO_000300: -8.558e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

DP
type: SiteQuality
SIO_000300: 6.72166e5

GenotypeQuality
all individuals: 135
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4195
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2365
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 2475
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
all individuals: 1097
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variant carriers: 0

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 204
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GenotypeQuality
all individuals: 400
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GenotypeQuality
all individuals: 518
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variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9400
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.805054151624549e-3
allele num: 554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.5e-3
allele num: 800
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.382120946538125e-4
allele num: 2282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.556e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

FS
type: SiteQuality
SIO_000300: 1.0816e2

MQ
type: SiteQuality
SIO_000300: 5.705e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

QD
type: SiteQuality
SIO_000300: 1.027e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.558e0

DP
type: SiteQuality
SIO_000300: 6.72166e5

GenotypeQuality
all individuals: 2470
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5600
bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4107
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GenotypeQuality
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GenotypeQuality
all individuals: 200
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variant carriers: 0

GenotypeQuality
all individuals: 176
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GenotypeQuality
all individuals: 521
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GenotypeQuality
all individuals: 317
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GenotypeQuality
all individuals: 400
bin: 8.25e1
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GenotypeQuality
all individuals: 2058
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variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.261670451678022e-4
allele num: 7926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.209e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 2.155e0

DP
type: SiteQuality
SIO_000300: 6.64685e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: -2.273e0

QD
type: SiteQuality
SIO_000300: 1.384e1

GenotypeQuality
all individuals: 3816
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
all individuals: 177
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GenotypeQuality
all individuals: 3954
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GenotypeQuality
all individuals: 184
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GenotypeQuality
all individuals: 368
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GenotypeQuality
all individuals: 163
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GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 85
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GenotypeQuality
all individuals: 320
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GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.17e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 3.441e1

DP
type: SiteQuality
SIO_000300: 6.52492e5

MQ
type: SiteQuality
SIO_000300: 5.303e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeQuality
all individuals: 281
bin: 7.25e1
variant carriers: 34

GenotypeQuality
all individuals: 2105
bin: 2.25e1
variant carriers: 91

GenotypeQuality
all individuals: 2805
bin: 1.25e1
variant carriers: 79

GenotypeQuality
all individuals: 317
bin: 5.25e1
variant carriers: 57

GenotypeQuality
all individuals: 107
bin: 8.75e1
variant carriers: 23

GenotypeQuality
all individuals: 16394
bin: 2.5e0
variant carriers: 66

GenotypeQuality
all individuals: 368
bin: 3.25e1
variant carriers: 67

GenotypeQuality
all individuals: 161
bin: 8.25e1
variant carriers: 28

GenotypeQuality
all individuals: 315
bin: 4.25e1
variant carriers: 55

GenotypeQuality
all individuals: 1472
bin: 1.75e1
variant carriers: 88

GenotypeQuality
all individuals: 279
bin: 7.75e1
variant carriers: 39

GenotypeQuality
all individuals: 618
bin: 9.75e1
variant carriers: 273

GenotypeQuality
all individuals: 365
bin: 4.75e1
variant carriers: 63

GenotypeQuality
all individuals: 313
bin: 2.75e1
variant carriers: 62

European (Finnish)
type: Population
allele count: 6
allele frequency: 1.25e-1
allele num: 48
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 482
allele frequency: 7.125960969840331e-2
allele num: 6764
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 6.329113924050633e-3
allele num: 158
num of homozygotes: 0

South Asian
type: Population
allele count: 99
allele frequency: 1.363636363636364e-2
allele num: 7260
num of homozygotes: 0

East Asian
type: Population
allele count: 27
allele frequency: 4.838709677419355e-2
allele num: 558
num of homozygotes: 0

Latino
type: Population
allele count: 22
allele frequency: 6.077348066298342e-2
allele num: 362
num of homozygotes: 0

African
type: Population
allele count: 166
allele frequency: 1.157601115760112e-1
allele num: 1434
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.169e-1

FS
type: SiteQuality
SIO_000300: 2.92476e2

VQSLOD
type: SiteQuality
SIO_000300: -3.903e2

MQ
type: SiteQuality
SIO_000300: 5.868e1

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.089e0

DP
type: SiteQuality
SIO_000300: 5.57547e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.344e0

QD
type: SiteQuality
SIO_000300: 2.09e0

GenotypeQuality
all individuals: 3542
bin: 1.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 2

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5348
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.755e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.03e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.593e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 4.68114e5

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 900
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.593e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.03e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.68114e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 2.755e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 17

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 1.942413162705667e-3
allele num: 8752
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.432664756446991e-3
allele num: 2094
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.42e0

VQSLOD
type: SiteQuality
SIO_000300: -1.15e2

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

MQ
type: SiteQuality
SIO_000300: 5.926e1

FS
type: SiteQuality
SIO_000300: 1.55309e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.412e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.425e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.701e0

DP
type: SiteQuality
SIO_000300: 4.65471e5

GenotypeQuality
all individuals: 176
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4326
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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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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.65471e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.412e0

VQSLOD
type: SiteQuality
SIO_000300: -1.15e2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.701e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

FS
type: SiteQuality
SIO_000300: 1.55309e2

QD
type: SiteQuality
SIO_000300: 2.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.425e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 1.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.425e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

QD
type: SiteQuality
SIO_000300: 2.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.412e0

FS
type: SiteQuality
SIO_000300: 1.55309e2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.701e0

DP
type: SiteQuality
SIO_000300: 4.65471e5

VQSLOD
type: SiteQuality
SIO_000300: -1.15e2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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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variant carriers: 17

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.347708894878706e-3
allele num: 2226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 1.86077057793345e-3
allele num: 9136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.23e-2

MQ
type: SiteQuality
SIO_000300: 5.905e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.13e1

DP
type: SiteQuality
SIO_000300: 4.59132e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.653e0

FS
type: SiteQuality
SIO_000300: 9.0273e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.889e0

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 2.59e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9194
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2236
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.258811681772407e-4
allele num: 7944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 4.60597e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.07e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2272
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.64e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.11786e5

QD
type: SiteQuality
SIO_000300: 5.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 5.25e1
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GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.317789291882556e-4
allele num: 2316
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 5.50442e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.199e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.82e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32656
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6956
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 2.316602316602316e-3
allele num: 2590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12330
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.843e1

QD
type: SiteQuality
SIO_000300: 1.303e1

DP
type: SiteQuality
SIO_000300: 6.14258e5

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12942
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.014e0

FS
type: SiteQuality
SIO_000300: 3.136e0

QD
type: SiteQuality
SIO_000300: 8.44e0

DP
type: SiteQuality
SIO_000300: 6.23147e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.35e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.662e1

GenotypeQuality
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bin: 2.5e0
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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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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variant carriers: 0

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

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 6.211180124223603e-4
allele num: 1610
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 6.821282401091405e-4
allele num: 1466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.47346e5

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQ
type: SiteQuality
SIO_000300: 5.703e1

FS
type: SiteQuality
SIO_000300: 1.356e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.008e0

QD
type: SiteQuality
SIO_000300: 1.309e1

GenotypeQuality
all individuals: 550
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 95
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variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.37925291458482e-4
allele num: 8406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1670
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.352e0

VQSLOD
type: SiteQuality
SIO_000300: -1.433e0

DP
type: SiteQuality
SIO_000300: 6.53057e5

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 5.766e1

QD
type: SiteQuality
SIO_000300: 7.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.78e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

GenotypeQuality
all individuals: 230
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35245
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1576
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GenotypeQuality
all individuals: 1091
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.796248470844094e-5
allele num: 14714
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.53057e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

MQ
type: SiteQuality
SIO_000300: 5.766e1

VQSLOD
type: SiteQuality
SIO_000300: -1.433e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.352e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.78e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

QD
type: SiteQuality
SIO_000300: 7.97e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 828
bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.885843600704048e-4
allele num: 15908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

FS
type: SiteQuality
SIO_000300: 1.221e0

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

QD
type: SiteQuality
SIO_000300: 1.043e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

DP
type: SiteQuality
SIO_000300: 6.46036e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

MQ
type: SiteQuality
SIO_000300: 5.75e1

VQSLOD
type: SiteQuality
SIO_000300: -1.319e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.02e-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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variant carriers: 9

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8262
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 5.71501143002286e-4
allele num: 15748
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1944
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1752
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.17256e5

FS
type: SiteQuality
SIO_000300: 1.6494e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.19e-2

MQ
type: SiteQuality
SIO_000300: 5.706e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.34e-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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variant carriers: 1

GenotypeQuality
all individuals: 125
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GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1962
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 3.563791874554526e-4
allele num: 2806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.42e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-1

QD
type: SiteQuality
SIO_000300: 1.463e1

VQSLOD
type: SiteQuality
SIO_000300: 5.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.88684e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.133e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 206
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2810
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1990
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.237623762376238e-4
allele num: 8080
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.813953488372093e-4
allele num: 1720
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.111e1

MQ
type: SiteQuality
SIO_000300: 5.863e1

VQSLOD
type: SiteQuality
SIO_000300: -1.894e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.41e-2

FS
type: SiteQuality
SIO_000300: 4.805e0

MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

DP
type: SiteQuality
SIO_000300: 5.88777e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15122
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.204819277108434e-3
allele num: 1660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1938
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

FS
type: SiteQuality
SIO_000300: 1.322e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.74e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

QD
type: SiteQuality
SIO_000300: 8.44e0

DP
type: SiteQuality
SIO_000300: 5.55172e5

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

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.607503607503608e-4
allele num: 2772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.245e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.259e1

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

DP
type: SiteQuality
SIO_000300: 5.54659e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.73e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 204
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

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

GenotypeQuality
all individuals: 212
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GenotypeQuality
all individuals: 241
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 1.525940996948118e-3
allele num: 1966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.26e0

FS
type: SiteQuality
SIO_000300: 2.643e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.67e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.328e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQ
type: SiteQuality
SIO_000300: 5.787e1

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

DP
type: SiteQuality
SIO_000300: 5.51815e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.658676255160474e-5
allele num: 15018
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.81e-2

MQ
type: SiteQuality
SIO_000300: 5.805e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.788e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.36e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.392e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

DP
type: SiteQuality
SIO_000300: 5.39523e5

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 2.040538702217385e-4
allele num: 14702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1648
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.049317943336831e-3
allele num: 1906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.37508e5

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

FS
type: SiteQuality
SIO_000300: 5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.694e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.714113065664025e-5
allele num: 14894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1664
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.93e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

DP
type: SiteQuality
SIO_000300: 5.33641e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

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
all individuals: 2530
bin: 6.25e1
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GenotypeQuality
all individuals: 552
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 2
allele frequency: 1.026694045174538e-3
allele num: 1948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
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VQSLOD
type: SiteQuality
SIO_000300: -1.461e0

DP
type: SiteQuality
SIO_000300: 5.30664e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 1.489e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.87e-2

QD
type: SiteQuality
SIO_000300: 1.397e1

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

MQ
type: SiteQuality
SIO_000300: 5.787e1

GenotypeQuality
all individuals: 3279
bin: 1.25e1
variant carriers: 15

GenotypeQuality
all individuals: 3626
bin: 1.75e1
variant carriers: 17

GenotypeQuality
all individuals: 2014
bin: 2.75e1
variant carriers: 13

GenotypeQuality
all individuals: 175
bin: 5.25e1
variant carriers: 16

GenotypeQuality
all individuals: 1026
bin: 9.75e1
variant carriers: 499

GenotypeQuality
all individuals: 219
bin: 4.25e1
variant carriers: 8

GenotypeQuality
all individuals: 581
bin: 6.75e1
variant carriers: 26

GenotypeQuality
all individuals: 1253
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 28

GenotypeQuality
all individuals: 2007
bin: 6.25e1
variant carriers: 14

GenotypeQuality
all individuals: 828
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 244
bin: 8.25e1
variant carriers: 40

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 26

GenotypeQuality
all individuals: 312
bin: 7.75e1
variant carriers: 22

GenotypeQuality
all individuals: 231
bin: 7.25e1
variant carriers: 15

GenotypeQuality
all individuals: 142
bin: 9.25e1
variant carriers: 24

European (Non-Finnish)
type: Population
allele count: 184
allele frequency: 1.250679717237629e-2
allele num: 14712
num of homozygotes: 4

South Asian
type: Population
allele count: 355
allele frequency: 4.679673081993145e-2
allele num: 7586
num of homozygotes: 12

Other
type: Population
allele count: 4
allele frequency: 1.739130434782609e-2
allele num: 230
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.813882532418002e-4
allele num: 2622
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 3.161222339304531e-3
allele num: 1898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 7.722007722007722e-3
allele num: 518
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

QD
type: SiteQuality
SIO_000300: 1.296e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 5.787e1

VQSLOD
type: SiteQuality
SIO_000300: 6.879999999999999e-1

DP
type: SiteQuality
SIO_000300: 5.22324e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
all individuals: 2188
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26874
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3396
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 854
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 204
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.908396946564885e-3
allele num: 524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1946
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.09e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.72e-1

FS
type: SiteQuality
SIO_000300: 4.242e0

DP
type: SiteQuality
SIO_000300: 5.18296e5

QD
type: SiteQuality
SIO_000300: 6.6e0

VQSLOD
type: SiteQuality
SIO_000300: -3.059e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.225e0

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1132
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4504
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23787
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16749
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1884
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.37e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.067e0

QD
type: SiteQuality
SIO_000300: 2.23e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

VQSLOD
type: SiteQuality
SIO_000300: 6.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 6.265e1

DP
type: SiteQuality
SIO_000300: 5.04483e5

GenotypeQuality
all individuals: 277
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3563
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3624
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3213
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7610
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1834
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13735
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4517
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16194
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552553951249806e-5
allele num: 64410
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.04e0

DP
type: SiteQuality
SIO_000300: 1.598017e6

FS
type: SiteQuality
SIO_000300: 2.363e0

MQ
type: SiteQuality
SIO_000300: 4.573e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.163e0

GenotypeQuality
all individuals: 2235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7603
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1526
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15111
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3565
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4427
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2718
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2434
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3517
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.217938753303279e-5
allele num: 64330
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.049e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

DP
type: SiteQuality
SIO_000300: 1.608694e6

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

GenotypeQuality
all individuals: 7366
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3631
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3543
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1835
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7660
bin: 9.75e1
variant carriers: 58

GenotypeQuality
all individuals: 16936
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4495
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1338
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.176278563656148e-4
allele num: 9190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.537042729787888e-4
allele num: 6506
num of homozygotes: 0

South Asian
type: Population
allele count: 45
allele frequency: 2.777777777777778e-3
allele num: 16200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.018132141082961e-4
allele num: 64416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.771929824561403e-5
allele num: 11400
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

FS
type: SiteQuality
SIO_000300: 6.53e-1

DP
type: SiteQuality
SIO_000300: 1.619508e6

QD
type: SiteQuality
SIO_000300: 1.413e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 4037
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4844
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1701
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 21478
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8052
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variant carriers: 0

GenotypeQuality
all individuals: 3894
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7708
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.171508903467666e-4
allele num: 8536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.251e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.344e1

FS
type: SiteQuality
SIO_000300: 9.481999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.67757e6

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.642e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.426e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

GenotypeQuality
all individuals: 2393
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
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variant carriers: 0

GenotypeQuality
all individuals: 7725
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 264
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variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3955
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 509
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4954
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4118
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.528117359413203e-4
allele num: 6544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.186e0

QD
type: SiteQuality
SIO_000300: 6.91e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 3.791e0

DP
type: SiteQuality
SIO_000300: 1.694016e6

VQSLOD
type: SiteQuality
SIO_000300: -2.14e0

GenotypeQuality
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bin: 1.75e1
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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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65022
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.735150244584206e-5
allele num: 11448
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.236e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: -9.888e-1

InbreedingCoeff
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SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

MQRankSum
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SIO_000300: -1.528e0

DP
type: SiteQuality
SIO_000300: 1.701918e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.126700159294204e-5
allele num: 65288
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.115059221658206e-4
allele num: 9456
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

QD
type: SiteQuality
SIO_000300: 1.094e1

FS
type: SiteQuality
SIO_000300: 1.879e0

MQRankSum
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SIO_000300: 1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.714334e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.234e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526810797605961e-5
allele num: 65496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.416e1

DP
type: SiteQuality
SIO_000300: 1.722808e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 1.455e0

MQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 5.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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
all individuals: 4062
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524064986131009e-5
allele num: 65614
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.31e-1

DP
type: SiteQuality
SIO_000300: 1.72753e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

QD
type: SiteQuality
SIO_000300: 1.187e1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.78e-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: 2.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.556639023056594e-5
allele num: 65838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.772e0

VQSLOD
type: SiteQuality
SIO_000300: 4.92e-1

DP
type: SiteQuality
SIO_000300: 1.733644e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

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: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.03777501037775e-4
allele num: 9636
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65868
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.5576e1

QD
type: SiteQuality
SIO_000300: 1.347e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.73422e6

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 1.033698573495969e-4
allele num: 9674
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
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allele count: 10
allele frequency: 1.515151515151515e-4
allele num: 66000
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.745e0

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.727e0

DP
type: SiteQuality
SIO_000300: 1.737232e6

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11492
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515243348081702e-5
allele num: 65996
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.736963e6

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

FS
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-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
all individuals: 131
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51437138443832e-5
allele num: 66034
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.357e0

FS
type: SiteQuality
SIO_000300: 3.379e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

DP
type: SiteQuality
SIO_000300: 1.736899e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.288e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0