6-31911818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911818
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911818
    reference: chr 6
allele count: 1
allele frequency: 8.652015919709293e-6
allele num: 115580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1072+48G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1351+48G>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1523+48G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.214+48G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1351+48G>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1123+48G>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1810+48G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1414+48G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1168+48G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2086+48G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1171+48G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1131+48G>A
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

6-31911819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911819
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911819
    reference: chr 6
allele count: 1
allele frequency: 8.65695932960507e-6
allele num: 115514
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1351+49G>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1414+49G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1523+49G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1810+49G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1123+49G>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1351+49G>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1171+49G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1072+49G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1131+49G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1168+49G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2086+49G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.214+49G>A
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7894
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

6-31911822-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911822
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911822
    reference: chr 6
allele count: 1
allele frequency: 8.661158170070502e-6
allele num: 115458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1123+52G>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2086+52G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1131+52G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1171+52G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1072+52G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1351+52G>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1414+52G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1168+52G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1523+52G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1351+52G>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.214+52G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1810+52G>A
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10207
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ

6-31911882-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911882
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911882
    reference: chr 6
allele count: 2
allele frequency: 1.721763085399449e-5
allele num: 116160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1172-30A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.215-30A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1415-30A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1524-30A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1811-30A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1352-30A>G
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1124-30A>G
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1073-30A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1352-30A>G
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1169-30A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1132-30A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2087-30A>G
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

6-31911892-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911892
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911891
    reference: chr 6
allele count: 4
allele frequency: 3.443170471370037e-5
allele num: 116172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1124-16delC
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1811-16delC
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1169-16delC
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1524-16delC
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1415-16delC
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1132-16delC
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2087-16delC
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1352-16delC
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1073-16delC
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.215-16delC
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1172-16delC
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1352-16delC
  variant of: http://identifiers.org/hgnc/1037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: TC
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-31911894-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911894
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911894
    reference: chr 6
allele count: 3
allele frequency: 2.582511233923867e-5
allele num: 116166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1352-18C>T
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1415-18C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1169-18C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1811-18C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1352-18C>T
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1172-18C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1132-18C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1124-18C>T
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.215-18C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1524-18C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2087-18C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1073-18C>T
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

6-31911902-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911902
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911902
    reference: chr 6
allele count: 1
allele frequency: 8.607037113544033e-6
allele num: 116184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1073-10T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1169-10T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1811-10T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1352-10T>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1352-10T>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1132-10T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1172-10T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.215-10T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1124-10T>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1415-10T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2087-10T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1524-10T>A
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

6-31911906-C-CTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911906
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911908
    reference: chr 6
allele count: 56
allele frequency: 4.819691883983131e-4
allele num: 116190
alternate allele: CTA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.215-3_215-2dupTA
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1811-3_1811-2dupTA
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1172-3_1172-2dupTA
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1169-3_1169-2dupTA
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1124-3_1124-2dupTA
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1352-3_1352-2dupTA
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1415-3_1415-2dupTA
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1352-3_1352-2dupTA
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1073-3_1073-2dupTA
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1132-3_1132-2dupTA
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1524-3_*1524-2dupTA
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2087-3_2087-2dupTA
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11442
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: c.1811-3_1811-2dupTA
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

6-31911908-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911908
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911908
    reference: chr 6
allele count: 1
allele frequency: 8.606592649969876e-6
allele num: 116190
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1352-4A>G
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2087-4A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1415-4A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1811-4A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1524-4A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1172-4A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1352-4A>G
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1169-4A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1132-4A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1073-4A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1124-4A>G
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.215-4A>G
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1811-4A>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

6-31911909-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911909
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911909
    reference: chr 6
allele count: 12
allele frequency: 1.032791117996385e-4
allele num: 116190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1415-3T>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1124-3T>C
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1132-3T>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2087-3T>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1811-3T>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1524-3T>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1352-3T>C
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1073-3T>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1169-3T>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1352-3T>C
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1172-3T>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.215-3T>C
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1811-3T>C
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

6-31911920-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911920
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911920
    reference: chr 6
allele count: 1
allele frequency: 8.606000103272e-6
allele num: 116198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2095C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.223C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1081C>G
  hgvsp: ENSP00000418923.1:p.Leu361Val
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1140C>G
  hgvsp: ENSP00000372664.3:p.Leu381Val
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1360C>G
  hgvsp: ENSP00000451848.1:p.Leu454Val
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1532C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1423C>G
  hgvsp: ENSP00000395683.2:p.Leu475Val
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1132C>G
  hgvsp: ENSP00000418996.1:p.Leu378Val
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1177C>G
  hgvsp: ENSP00000392322.2:p.Leu393Val
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1180C>G
  hgvsp: ENSP00000417482.1:p.Leu394Val
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1360C>G
  hgvsp: ENSP00000410815.1:p.Leu454Val
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1819C>G
  hgvsp: ENSP00000299367.5:p.Leu607Val
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu607Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

6-31911922-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911922
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911922
    reference: chr 6
allele count: 2
allele frequency: 1.7212000206544e-5
allele num: 116198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1083G>T
  hgvsp: ENST00000469372.1:c.1083G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1362G>T
  hgvsp: ENST00000556679.1:c.1362G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1179G>T
  hgvsp: ENST00000452323.2:c.1179G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1362G>T
  hgvsp: ENST00000456570.1:c.1362G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.225G>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1182G>T
  hgvsp: ENST00000497706.1:c.1182G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2097G>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1142G>T
  hgvsp: ENST00000383177.3:c.1142G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1134G>T
  hgvsp: ENST00000477310.1:c.1134G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1425G>T
  hgvsp: ENST00000442278.2:c.1425G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1821G>T
  hgvsp: ENST00000299367.5:c.1821G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1534G>T
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu607Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-31911923-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911923
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911923
    reference: chr 6
allele count: 1
allele frequency: 8.606148232297153e-6
allele num: 116196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1363C>T
  hgvsp: ENST00000556679.1:c.1363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1183C>T
  hgvsp: ENST00000497706.1:c.1183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1535C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1426C>T
  hgvsp: ENST00000442278.2:c.1426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1180C>T
  hgvsp: ENST00000452323.2:c.1180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1135C>T
  hgvsp: ENST00000477310.1:c.1135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1822C>T
  hgvsp: ENST00000299367.5:c.1822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1084C>T
  hgvsp: ENST00000469372.1:c.1084C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1143C>T
  hgvsp: ENST00000383177.3:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1363C>T
  hgvsp: ENST00000456570.1:c.1363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2098C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.226C>T
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu608Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

6-31911925-GAACA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911925
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911921
    reference: chr 6
allele count: 2
allele frequency: 1.7212000206544e-5
allele num: 116198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1150_1153delAACA
  hgvsp: ENSP00000372664.3:p.Lys384ArgfsTer10
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1142_1145delAACA
  hgvsp: ENSP00000418996.1:p.Lys381ArgfsTer10
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2105_2108delAACA
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1542_*1545delAACA
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1091_1094delAACA
  hgvsp: ENSP00000418923.1:p.Lys364ArgfsTer10
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1370_1373delAACA
  hgvsp: ENSP00000410815.1:p.Lys457ArgfsTer10
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1187_1190delAACA
  hgvsp: ENSP00000392322.2:p.Lys396ArgfsTer10
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1370_1373delAACA
  hgvsp: ENSP00000451848.1:p.Lys457ArgfsTer10
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1190_1193delAACA
  hgvsp: ENSP00000417482.1:p.Lys397ArgfsTer10
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1829_1832delAACA
  hgvsp: ENSP00000299367.5:p.Lys610ArgfsTer10
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1433_1436delAACA
  hgvsp: ENSP00000395683.2:p.Lys478ArgfsTer10
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.233_236delAACA
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys610ArgfsTer10
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: GAACA
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

6-31911936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911936
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911936
    reference: chr 6
allele count: 46
allele frequency: 3.958623775838626e-4
allele num: 116202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1156G>A
  hgvsp: ENSP00000372664.3:p.Ser386Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1548G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1835G>A
  hgvsp: ENSP00000299367.5:p.Ser612Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1097G>A
  hgvsp: ENSP00000418923.1:p.Ser366Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1439G>A
  hgvsp: ENSP00000395683.2:p.Ser480Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1196G>A
  hgvsp: ENSP00000417482.1:p.Ser399Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1193G>A
  hgvsp: ENSP00000392322.2:p.Ser398Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1376G>A
  hgvsp: ENSP00000451848.1:p.Ser459Asn
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2111G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1376G>A
  hgvsp: ENSP00000410815.1:p.Ser459Asn
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.239G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1148G>A
  hgvsp: ENSP00000418996.1:p.Ser383Asn
  variant of: http://identifiers.org/hgnc/1037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11431
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
hgvs: p.Ser612Asn
num of homozygotes: 2
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

6-31911941-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911941
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911941
    reference: chr 6
allele count: 1
allele frequency: 8.605703860518751e-6
allele num: 116202
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1840C>T
  hgvsp: ENSP00000299367.5:p.Pro614Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1153C>T
  hgvsp: ENSP00000418996.1:p.Pro385Ser
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1381C>T
  hgvsp: ENSP00000410815.1:p.Pro461Ser
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2116C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1201C>T
  hgvsp: ENSP00000417482.1:p.Pro401Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1102C>T
  hgvsp: ENSP00000418923.1:p.Pro368Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1198C>T
  hgvsp: ENSP00000392322.2:p.Pro400Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1161C>T
  hgvsp: ENSP00000372664.3:p.Pro388Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1381C>T
  hgvsp: ENSP00000451848.1:p.Pro461Ser
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1553C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1444C>T
  hgvsp: ENSP00000395683.2:p.Pro482Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.244C>T
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro614Ser
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

6-31911955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911955
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911955
    reference: chr 6
allele count: 1
allele frequency: 8.606000103272e-6
allele num: 116198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1175C>T
  hgvsp: ENST00000383177.3:c.1175C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1567C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1395C>T
  hgvsp: ENST00000556679.1:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1395C>T
  hgvsp: ENST00000456570.1:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1167C>T
  hgvsp: ENST00000477310.1:c.1167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1212C>T
  hgvsp: ENST00000452323.2:c.1212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2130C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1215C>T
  hgvsp: ENST00000497706.1:c.1215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.258C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1854C>T
  hgvsp: ENST00000299367.5:c.1854C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1116C>T
  hgvsp: ENST00000469372.1:c.1116C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1458C>T
  hgvsp: ENST00000442278.2:c.1458C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val618Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

6-31911972-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911972
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911972
    reference: chr 6
allele count: 1
allele frequency: 8.606000103272e-6
allele num: 116198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1412A>G
  hgvsp: ENSP00000451848.1:p.Lys471Arg
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1229A>G
  hgvsp: ENSP00000392322.2:p.Lys410Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1871A>G
  hgvsp: ENSP00000299367.5:p.Lys624Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1184A>G
  hgvsp: ENSP00000418996.1:p.Lys395Arg
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.275A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2147A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1412A>G
  hgvsp: ENSP00000410815.1:p.Lys471Arg
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1475A>G
  hgvsp: ENSP00000395683.2:p.Lys492Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1232A>G
  hgvsp: ENSP00000417482.1:p.Lys411Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1133A>G
  hgvsp: ENSP00000418923.1:p.Lys378Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1584A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1192A>G
  hgvsp: ENSP00000372664.3:p.Lys398Arg
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22773
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys624Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

6-31911978-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31911978
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31911978
    reference: chr 6
allele count: 1
allele frequency: 8.607481623026734e-6
allele num: 116178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1190A>G
  hgvsp: ENSP00000418996.1:p.Asn397Ser
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1198A>G
  hgvsp: ENSP00000372664.3:p.Asn400Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1235A>G
  hgvsp: ENSP00000392322.2:p.Asn412Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1238A>G
  hgvsp: ENSP00000417482.1:p.Asn413Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1481A>G
  hgvsp: ENSP00000395683.2:p.Asn494Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1418A>G
  hgvsp: ENSP00000410815.1:p.Asn473Ser
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1418A>G
  hgvsp: ENSP00000451848.1:p.Asn473Ser
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1877A>G
  hgvsp: ENSP00000299367.5:p.Asn626Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.281A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1139A>G
  hgvsp: ENSP00000418923.1:p.Asn380Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1590A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2153A>G
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn626Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

6-31912008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912008
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912008
    reference: chr 6
allele count: 18
allele frequency: 1.553625990436569e-4
allele num: 115858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1263+5G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1443+5G>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1902+5G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1260+5G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1223+5G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1164+5G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1215+5G>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2178+5G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.306+5G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1615+5G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1506+5G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1443+5G>A
  variant of: http://identifiers.org/hgnc/1037
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22225
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1902+5G>A
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

6-31912009-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912009
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912009
    reference: chr 6
allele count: 6774
allele frequency: 5.849740932642487e-2
allele num: 115800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1164+6G>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1615+6G>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.306+6G>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1260+6G>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2178+6G>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1443+6G>C
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1443+6G>C
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1902+6G>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1215+6G>C
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1263+6G>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1506+6G>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1223+6G>C
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.75e1
  variant carriers: 423
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 10780
  bin: 3.25e1
  variant carriers: 578
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.25e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 5.25e1
  variant carriers: 558
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 21841
  bin: 2.75e1
  variant carriers: 414
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 4.25e1
  variant carriers: 779
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 3.75e1
  variant carriers: 693
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.25e1
  variant carriers: 310
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
hgvs: c.1902+6G>C
num of homozygotes: 348
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/6-31912034-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912034
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912034
    reference: chr 6
allele count: 1
allele frequency: 8.736218615134625e-6
allele num: 114466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1443+31C>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1223+31C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1215+31C>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1506+31C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1164+31C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1902+31C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1443+31C>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1615+31C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1260+31C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2178+31C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1263+31C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.306+31C>A
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8408
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-31912035-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912035
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912035
    reference: chr 6
allele count: 1
allele frequency: 8.741717222931273e-6
allele num: 114394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1506+32C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1215+32C>T
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1443+32C>T
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1223+32C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.306+32C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1615+32C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1443+32C>T
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1260+32C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1164+32C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1263+32C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1902+32C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2178+32C>T
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

6-31912036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912036
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912036
    reference: chr 6
allele count: 2
allele frequency: 1.748496293187858e-5
allele num: 114384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1164+33C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1443+33C>T
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1615+33C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1223+33C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1263+33C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1443+33C>T
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1260+33C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2178+33C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.306+33C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1506+33C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1215+33C>T
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1902+33C>T
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ

6-31912037-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912037
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912037
    reference: chr 6
allele count: 1
allele frequency: 8.748294082653882e-6
allele num: 114308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1215+34C>T
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1443+34C>T
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.306+34C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1223+34C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1902+34C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1164+34C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1615+34C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2178+34C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1263+34C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1506+34C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1260+34C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1443+34C>T
  variant of: http://identifiers.org/hgnc/1037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7722
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

6-31912037-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912037
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912035
    reference: chr 6
allele count: 3
allele frequency: 2.624488224796165e-5
allele num: 114308
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1443+35_1443+36delCT
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1223+35_1223+36delCT
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2178+35_2178+36delCT
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1260+35_1260+36delCT
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1615+35_*1615+36delCT
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1263+35_1263+36delCT
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.306+35_306+36delCT
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1164+35_1164+36delCT
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1215+35_1215+36delCT
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1902+35_1902+36delCT
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1443+35_1443+36delCT
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1506+35_1506+36delCT
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16323
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7722
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: CCT
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

6-31912456-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912456
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912456
    reference: chr 6
allele count: 6
allele frequency: 5.185377236193933e-5
allele num: 115710
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1507-48C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1444-48C>G
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1165-48C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1261-48C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1216-48C>G
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2179-48C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1264-48C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1903-48C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1224-48C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.307-48C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1444-48C>G
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1616-48C>G
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

6-31912458-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912458
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912458
    reference: chr 6
allele count: 1
allele frequency: 8.643490587238751e-6
allele num: 115694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1261-46G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1616-46G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1216-46G>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1264-46G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1507-46G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1165-46G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1444-46G>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1224-46G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2179-46G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1444-46G>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.307-46G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1903-46G>A
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

6-31912478-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912478
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912478
    reference: chr 6
allele count: 956
allele frequency: 8.250198488038938e-3
allele num: 115876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1444-26T>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.307-26T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1224-26T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1261-26T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1616-26T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1444-26T>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2179-26T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1903-26T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1216-26T>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1507-26T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1264-26T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1165-26T>A
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 8.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 4.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 9.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 6.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 5.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 7.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 8.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 6.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 7.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 4.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
num of homozygotes: 36
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

6-31912479-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912479
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912479
    reference: chr 6
allele count: 3
allele frequency: 2.588616988230421e-5
allele num: 115892
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1903-25C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1616-25C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1261-25C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1165-25C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1444-25C>T
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2179-25C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.307-25C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1224-25C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1264-25C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1507-25C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1444-25C>T
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1216-25C>T
  variant of: http://identifiers.org/hgnc/1037
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

6-31912487-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912487
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912487
    reference: chr 6
allele count: 1
allele frequency: 8.622473615230737e-6
allele num: 115976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1261-17T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1224-17T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1507-17T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1165-17T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1264-17T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1444-17T>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1616-17T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1444-17T>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.307-17T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1216-17T>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2179-17T>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1903-17T>A
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/6-31912489-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912489
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912489
    reference: chr 6
allele count: 1
allele frequency: 8.622027556000069e-6
allele num: 115982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1261-15C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1444-15C>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2179-15C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1903-15C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1507-15C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1216-15C>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1616-15C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1165-15C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1444-15C>A
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1264-15C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1224-15C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.307-15C>A
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

6-31912493-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912493
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912493
    reference: chr 6
allele count: 1
allele frequency: 8.618906433151761e-6
allele num: 116024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1216-11C>G
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1264-11C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1903-11C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1507-11C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1444-11C>G
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1444-11C>G
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1165-11C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1261-11C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2179-11C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1224-11C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.307-11C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1616-11C>G
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

6-31912501-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912501
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912501
    reference: chr 6
allele count: 2
allele frequency: 1.723127821621808e-5
allele num: 116068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1507-3C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1903-3C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1264-3C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1224-3C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1444-3C>T
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1616-3C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2179-3C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1444-3C>T
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1165-3C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1261-3C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1216-3C>T
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.307-3C>T
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.1903-3C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

6-31912505-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912505
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912505
    reference: chr 6
allele count: 1
allele frequency: 8.613857974709713e-6
allele num: 116092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1265G>A
  hgvsp: ENSP00000417482.1:p.Trp422Ter
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1225G>A
  hgvsp: ENSP00000372664.3:p.Trp409Ter
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1262G>A
  hgvsp: ENSP00000392322.2:p.Trp421Ter
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1508G>A
  hgvsp: ENSP00000395683.2:p.Trp503Ter
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1166G>A
  hgvsp: ENSP00000418923.1:p.Trp389Ter
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1617G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.308G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1217G>A
  hgvsp: ENSP00000418996.1:p.Trp406Ter
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1445G>A
  hgvsp: ENSP00000410815.1:p.Trp482Ter
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1445G>A
  hgvsp: ENSP00000451848.1:p.Trp482Ter
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1904G>A
  hgvsp: ENSP00000299367.5:p.Trp635Ter
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2180G>A
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp635Ter
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

6-31912508-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912508
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912508
    reference: chr 6
allele count: 1
allele frequency: 8.612819320276298e-6
allele num: 116106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1511C>G
  hgvsp: ENSP00000395683.2:p.Thr504Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1265C>G
  hgvsp: ENSP00000392322.2:p.Thr422Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1907C>G
  hgvsp: ENSP00000299367.5:p.Thr636Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1169C>G
  hgvsp: ENSP00000418923.1:p.Thr390Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1228C>G
  hgvsp: ENSP00000372664.3:p.Thr410Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1448C>G
  hgvsp: ENSP00000451848.1:p.Thr483Arg
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1448C>G
  hgvsp: ENSP00000410815.1:p.Thr483Arg
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1268C>G
  hgvsp: ENSP00000417482.1:p.Thr423Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1220C>G
  hgvsp: ENSP00000418996.1:p.Thr407Arg
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1620C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2183C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.311C>G
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr483Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-31912511-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912511
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912511
    reference: chr 6
allele count: 1
allele frequency: 8.612077577594818e-6
allele num: 116116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1172G>A
  hgvsp: ENSP00000418923.1:p.Ser391Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1910G>A
  hgvsp: ENSP00000299367.5:p.Ser637Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1623G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1514G>A
  hgvsp: ENSP00000395683.2:p.Ser505Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1271G>A
  hgvsp: ENSP00000417482.1:p.Ser424Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1451G>A
  hgvsp: ENSP00000410815.1:p.Ser484Asn
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1231G>A
  hgvsp: ENSP00000372664.3:p.Ser411Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1268G>A
  hgvsp: ENSP00000392322.2:p.Ser423Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2186G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.314G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1223G>A
  hgvsp: ENSP00000418996.1:p.Ser408Asn
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1451G>A
  hgvsp: ENSP00000451848.1:p.Ser484Asn
  variant of: http://identifiers.org/hgnc/1037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser484Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

6-31912512-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912512
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912512
    reference: chr 6
allele count: 5
allele frequency: 4.305890458146745e-5
allele num: 116120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1624C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1515C>G
  hgvsp: ENSP00000395683.2:p.Ser505Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1173C>G
  hgvsp: ENSP00000418923.1:p.Ser391Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1224C>G
  hgvsp: ENSP00000418996.1:p.Ser408Arg
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.315C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1232C>G
  hgvsp: ENSP00000372664.3:p.Ser411Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1452C>G
  hgvsp: ENSP00000410815.1:p.Ser484Arg
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1269C>G
  hgvsp: ENSP00000392322.2:p.Ser423Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1272C>G
  hgvsp: ENSP00000417482.1:p.Ser424Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1452C>G
  hgvsp: ENSP00000451848.1:p.Ser484Arg
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1911C>G
  hgvsp: ENSP00000299367.5:p.Ser637Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2187C>G
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser484Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

6-31912514-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912514
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912514
    reference: chr 6
allele count: 5
allele frequency: 4.305445527503186e-5
allele num: 116132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1271G>A
  hgvsp: ENSP00000392322.2:p.Cys424Tyr
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1175G>A
  hgvsp: ENSP00000418923.1:p.Cys392Tyr
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1626G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1234G>A
  hgvsp: ENSP00000372664.3:p.Cys412Tyr
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1517G>A
  hgvsp: ENSP00000395683.2:p.Cys506Tyr
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1454G>A
  hgvsp: ENSP00000410815.1:p.Cys485Tyr
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1226G>A
  hgvsp: ENSP00000418996.1:p.Cys409Tyr
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1454G>A
  hgvsp: ENSP00000451848.1:p.Cys485Tyr
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2189G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1274G>A
  hgvsp: ENSP00000417482.1:p.Cys425Tyr
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1913G>A
  hgvsp: ENSP00000299367.5:p.Cys638Tyr
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.317G>A
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Cys485Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

6-31912518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912518
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912518
    reference: chr 6
allele count: 1
allele frequency: 8.609408361457401e-6
allele num: 116152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1278C>T
  hgvsp: ENST00000497706.1:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1458C>T
  hgvsp: ENST00000556679.1:c.1458C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1917C>T
  hgvsp: ENST00000299367.5:c.1917C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1630C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1230C>T
  hgvsp: ENST00000477310.1:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1521C>T
  hgvsp: ENST00000442278.2:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1458C>T
  hgvsp: ENST00000456570.1:c.1458C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1275C>T
  hgvsp: ENST00000452323.2:c.1275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2193C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1179C>T
  hgvsp: ENST00000469372.1:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.321C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1238C>T
  hgvsp: ENST00000383177.3:c.1238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala486Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

6-31912519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912519
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912519
    reference: chr 6
allele count: 1
allele frequency: 8.608815426997244e-6
allele num: 116160
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1918G>A
  hgvsp: ENSP00000299367.5:p.Glu640Lys
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1459G>A
  hgvsp: ENSP00000410815.1:p.Glu487Lys
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1459G>A
  hgvsp: ENSP00000451848.1:p.Glu487Lys
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1231G>A
  hgvsp: ENSP00000418996.1:p.Glu411Lys
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1279G>A
  hgvsp: ENSP00000417482.1:p.Glu427Lys
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1631G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1180G>A
  hgvsp: ENSP00000418923.1:p.Glu394Lys
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2194G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1522G>A
  hgvsp: ENSP00000395683.2:p.Glu508Lys
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.322G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1276G>A
  hgvsp: ENSP00000392322.2:p.Glu426Lys
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1239G>A
  hgvsp: ENSP00000372664.3:p.Glu414Lys
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu487Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

6-31912523-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912523
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912523
    reference: chr 6
allele count: 1776
allele frequency: 1.528767689288297e-2
allele num: 116172
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1463T>C
  hgvsp: ENSP00000410815.1:p.Val488Ala
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1280T>C
  hgvsp: ENSP00000392322.2:p.Val427Ala
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1243T>C
  hgvsp: ENSP00000372664.3:p.Val415Ala
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1635T>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1922T>C
  hgvsp: ENSP00000299367.5:p.Val641Ala
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1526T>C
  hgvsp: ENSP00000395683.2:p.Val509Ala
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1235T>C
  hgvsp: ENSP00000418996.1:p.Val412Ala
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2198T>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1184T>C
  hgvsp: ENSP00000418923.1:p.Val395Ala
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1283T>C
  hgvsp: ENSP00000417482.1:p.Val428Ala
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1463T>C
  hgvsp: ENSP00000451848.1:p.Val488Ala
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.326T>C
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 6868
  bin: 9.75e1
  variant carriers: 953
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 5.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 6.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 6.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 7.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 9.25e1
  variant carriers: 136
genotype quality: GenotypeQuality
hgvs: p.Val488Ala
num of homozygotes: 46
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

6-31912540-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912540
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912540
    reference: chr 6
allele count: 1
allele frequency: 8.605851979345956e-6
allele num: 116200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1543A>G
  hgvsp: ENSP00000395683.2:p.Thr515Ala
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.343A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1260A>G
  hgvsp: ENSP00000372664.3:p.Thr421Ala
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1480A>G
  hgvsp: ENSP00000410815.1:p.Thr494Ala
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1652A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1201A>G
  hgvsp: ENSP00000418923.1:p.Thr401Ala
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1297A>G
  hgvsp: ENSP00000392322.2:p.Thr433Ala
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2215A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1480A>G
  hgvsp: ENSP00000451848.1:p.Thr494Ala
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1252A>G
  hgvsp: ENSP00000418996.1:p.Thr418Ala
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1939A>G
  hgvsp: ENSP00000299367.5:p.Thr647Ala
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1300A>G
  hgvsp: ENSP00000417482.1:p.Thr434Ala
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr494Ala
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

6-31912544-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912544
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912544
    reference: chr 6
allele count: 1
allele frequency: 8.605703860518751e-6
allele num: 116202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1304T>C
  hgvsp: ENSP00000417482.1:p.Met435Thr
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1484T>C
  hgvsp: ENSP00000410815.1:p.Met495Thr
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1264T>C
  hgvsp: ENSP00000372664.3:p.Met422Thr
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1656T>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1943T>C
  hgvsp: ENSP00000299367.5:p.Met648Thr
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1301T>C
  hgvsp: ENSP00000392322.2:p.Met434Thr
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1484T>C
  hgvsp: ENSP00000451848.1:p.Met495Thr
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1547T>C
  hgvsp: ENSP00000395683.2:p.Met516Thr
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1205T>C
  hgvsp: ENSP00000418923.1:p.Met402Thr
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.347T>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1256T>C
  hgvsp: ENSP00000418996.1:p.Met419Thr
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2219T>C
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met495Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/6-31912551-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912551
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912551
    reference: chr 6
allele count: 1
allele frequency: 8.605555746790128e-6
allele num: 116204
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1491C>A
  hgvsp: ENST00000456570.1:c.1491C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1950C>A
  hgvsp: ENST00000299367.5:c.1950C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1491C>A
  hgvsp: ENST00000556679.1:c.1491C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1311C>A
  hgvsp: ENST00000497706.1:c.1311C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1308C>A
  hgvsp: ENST00000452323.2:c.1308C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1271C>A
  hgvsp: ENST00000383177.3:c.1271C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1263C>A
  hgvsp: ENST00000477310.1:c.1263C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1212C>A
  hgvsp: ENST00000469372.1:c.1212C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2226C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.354C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1663C>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1554C>A
  hgvsp: ENST00000442278.2:c.1554C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro497Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP

6-31912557-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912557
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912557
    reference: chr 6
allele count: 1
allele frequency: 8.605555746790128e-6
allele num: 116204
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1956G>C
  hgvsp: ENSP00000299367.5:p.Leu652Phe
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2232G>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1497G>C
  hgvsp: ENSP00000410815.1:p.Leu499Phe
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1497G>C
  hgvsp: ENSP00000451848.1:p.Leu499Phe
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1560G>C
  hgvsp: ENSP00000395683.2:p.Leu520Phe
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1317G>C
  hgvsp: ENSP00000417482.1:p.Leu439Phe
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1218G>C
  hgvsp: ENSP00000418923.1:p.Leu406Phe
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1277G>C
  hgvsp: ENSP00000372664.3:p.Leu426Phe
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1314G>C
  hgvsp: ENSP00000392322.2:p.Leu438Phe
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1269G>C
  hgvsp: ENSP00000418996.1:p.Leu423Phe
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1669G>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.360G>C
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu499Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

6-31912561-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912561
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912561
    reference: chr 6
allele count: 1
allele frequency: 8.605555746790128e-6
allele num: 116204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.364G>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2236G>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1318G>C
  hgvsp: ENSP00000392322.2:p.Asp440His
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1273G>C
  hgvsp: ENSP00000418996.1:p.Asp425His
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1321G>C
  hgvsp: ENSP00000417482.1:p.Asp441His
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1222G>C
  hgvsp: ENSP00000418923.1:p.Asp408His
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1501G>C
  hgvsp: ENSP00000410815.1:p.Asp501His
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1501G>C
  hgvsp: ENSP00000451848.1:p.Asp501His
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1281G>C
  hgvsp: ENSP00000372664.3:p.Asp428His
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1564G>C
  hgvsp: ENSP00000395683.2:p.Asp522His
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1960G>C
  hgvsp: ENSP00000299367.5:p.Asp654His
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1673G>C
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp501His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

6-31912566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912566
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912566
    reference: chr 6
allele count: 12
allele frequency: 1.032648916579178e-4
allele num: 116206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1506C>T
  hgvsp: ENST00000556679.1:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1965C>T
  hgvsp: ENST00000299367.5:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.369C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2241C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1569C>T
  hgvsp: ENST00000442278.2:c.1569C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1323C>T
  hgvsp: ENST00000452323.2:c.1323C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1678C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1326C>T
  hgvsp: ENST00000497706.1:c.1326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1286C>T
  hgvsp: ENST00000383177.3:c.1286C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1278C>T
  hgvsp: ENST00000477310.1:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1227C>T
  hgvsp: ENST00000469372.1:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1506C>T
  hgvsp: ENST00000456570.1:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val502Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

6-31912567-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912567
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912567
    reference: chr 6
allele count: 1
allele frequency: 8.605259534627564e-6
allele num: 116208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.370A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1507A>G
  hgvsp: ENSP00000451848.1:p.Arg503Gly
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1324A>G
  hgvsp: ENSP00000392322.2:p.Arg442Gly
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1679A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1507A>G
  hgvsp: ENSP00000410815.1:p.Arg503Gly
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2242A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1570A>G
  hgvsp: ENSP00000395683.2:p.Arg524Gly
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1279A>G
  hgvsp: ENSP00000418996.1:p.Arg427Gly
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1966A>G
  hgvsp: ENSP00000299367.5:p.Arg656Gly
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1327A>G
  hgvsp: ENSP00000417482.1:p.Arg443Gly
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1228A>G
  hgvsp: ENSP00000418923.1:p.Arg410Gly
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1287A>G
  hgvsp: ENSP00000372664.3:p.Arg430Gly
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg503Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

6-31912570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912570
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912570
    reference: chr 6
allele count: 1
allele frequency: 8.605259534627564e-6
allele num: 116208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1282G>A
  hgvsp: ENSP00000418996.1:p.Glu428Lys
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1682G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1573G>A
  hgvsp: ENSP00000395683.2:p.Glu525Lys
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1231G>A
  hgvsp: ENSP00000418923.1:p.Glu411Lys
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1330G>A
  hgvsp: ENSP00000417482.1:p.Glu444Lys
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.373G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1969G>A
  hgvsp: ENSP00000299367.5:p.Glu657Lys
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1510G>A
  hgvsp: ENSP00000410815.1:p.Glu504Lys
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1510G>A
  hgvsp: ENSP00000451848.1:p.Glu504Lys
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1290G>A
  hgvsp: ENSP00000372664.3:p.Glu431Lys
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1327G>A
  hgvsp: ENSP00000392322.2:p.Glu443Lys
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2245G>A
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu504Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-31912582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912582
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912582
    reference: chr 6
allele count: 6
allele frequency: 5.163333448074076e-5
allele num: 116204
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1522G>A
  hgvsp: ENSP00000410815.1:p.Asp508Asn
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1294G>A
  hgvsp: ENSP00000418996.1:p.Asp432Asn
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1342G>A
  hgvsp: ENSP00000417482.1:p.Asp448Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2257G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1243G>A
  hgvsp: ENSP00000418923.1:p.Asp415Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1981G>A
  hgvsp: ENSP00000299367.5:p.Asp661Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.385G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1694G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1339G>A
  hgvsp: ENSP00000392322.2:p.Asp447Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1585G>A
  hgvsp: ENSP00000395683.2:p.Asp529Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1302G>A
  hgvsp: ENSP00000372664.3:p.Asp435Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1522G>A
  hgvsp: ENSP00000451848.1:p.Asp508Asn
  variant of: http://identifiers.org/hgnc/1037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Asp508Asn
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

6-31912584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912584
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912584
    reference: chr 6
allele count: 1
allele frequency: 8.605555746790128e-6
allele num: 116204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1341C>T
  hgvsp: ENST00000452323.2:c.1341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.387C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1983C>T
  hgvsp: ENST00000299367.5:c.1983C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2259C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1524C>T
  hgvsp: ENST00000456570.1:c.1524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1587C>T
  hgvsp: ENST00000442278.2:c.1587C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1296C>T
  hgvsp: ENST00000477310.1:c.1296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1524C>T
  hgvsp: ENST00000556679.1:c.1524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1344C>T
  hgvsp: ENST00000497706.1:c.1344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1245C>T
  hgvsp: ENST00000469372.1:c.1245C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1304C>T
  hgvsp: ENST00000383177.3:c.1304C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1696C>T
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp508Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

6-31912588-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912588
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912588
    reference: chr 6
allele count: 1
allele frequency: 8.60540763815982e-6
allele num: 116206
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1528T>C
  hgvsp: ENSP00000410815.1:p.Phe510Leu
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1345T>C
  hgvsp: ENSP00000392322.2:p.Phe449Leu
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1300T>C
  hgvsp: ENSP00000418996.1:p.Phe434Leu
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1987T>C
  hgvsp: ENSP00000299367.5:p.Phe663Leu
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1249T>C
  hgvsp: ENSP00000418923.1:p.Phe417Leu
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.391T>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1308T>C
  hgvsp: ENSP00000372664.3:p.Phe437Leu
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1528T>C
  hgvsp: ENSP00000451848.1:p.Phe510Leu
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1348T>C
  hgvsp: ENSP00000417482.1:p.Phe450Leu
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1591T>C
  hgvsp: ENSP00000395683.2:p.Phe531Leu
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2263T>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1700T>C
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe510Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

6-31912598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912598
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912598
    reference: chr 6
allele count: 1
allele frequency: 8.60540763815982e-6
allele num: 116206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1355G>A
  hgvsp: ENSP00000392322.2:p.Ser452Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1538G>A
  hgvsp: ENSP00000410815.1:p.Ser513Asn
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1358G>A
  hgvsp: ENSP00000417482.1:p.Ser453Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1310G>A
  hgvsp: ENSP00000418996.1:p.Ser437Asn
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1318G>A
  hgvsp: ENSP00000372664.3:p.Ser440Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.1997G>A
  hgvsp: ENSP00000299367.5:p.Ser666Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1259G>A
  hgvsp: ENSP00000418923.1:p.Ser420Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2273G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1601G>A
  hgvsp: ENSP00000395683.2:p.Ser534Asn
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1710G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.401G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1538G>A
  hgvsp: ENSP00000451848.1:p.Ser513Asn
  variant of: http://identifiers.org/hgnc/1037
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser513Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

6-31912603-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912603
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912603
    reference: chr 6
allele count: 1
allele frequency: 8.605555746790128e-6
allele num: 116204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1264A>T
  hgvsp: ENSP00000418923.1:p.Thr422Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1360A>T
  hgvsp: ENSP00000392322.2:p.Thr454Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1363A>T
  hgvsp: ENSP00000417482.1:p.Thr455Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1323A>T
  hgvsp: ENSP00000372664.3:p.Thr442Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1315A>T
  hgvsp: ENSP00000418996.1:p.Thr439Ser
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1715A>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2278A>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1543A>T
  hgvsp: ENSP00000410815.1:p.Thr515Ser
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1543A>T
  hgvsp: ENSP00000451848.1:p.Thr515Ser
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.406A>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.2002A>T
  hgvsp: ENSP00000299367.5:p.Thr668Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1606A>T
  hgvsp: ENSP00000395683.2:p.Thr536Ser
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr515Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

6-31912604-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912604
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912604
    reference: chr 6
allele count: 1
allele frequency: 8.605555746790128e-6
allele num: 116204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1544C>G
  hgvsp: ENSP00000451848.1:p.Thr515Ser
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.2003C>G
  hgvsp: ENSP00000299367.5:p.Thr668Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1364C>G
  hgvsp: ENSP00000417482.1:p.Thr455Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.407C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1607C>G
  hgvsp: ENSP00000395683.2:p.Thr536Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1361C>G
  hgvsp: ENSP00000392322.2:p.Thr454Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1716C>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1324C>G
  hgvsp: ENSP00000372664.3:p.Thr442Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1316C>G
  hgvsp: ENSP00000418996.1:p.Thr439Ser
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1544C>G
  hgvsp: ENSP00000410815.1:p.Thr515Ser
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1265C>G
  hgvsp: ENSP00000418923.1:p.Thr422Ser
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2279C>G
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr515Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

6-31912609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912609
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912609
    reference: chr 6
allele count: 1
allele frequency: 8.60540763815982e-6
allele num: 116206
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.2008G>A
  hgvsp: ENSP00000299367.5:p.Glu670Lys
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2284G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1549G>A
  hgvsp: ENSP00000410815.1:p.Glu517Lys
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1366G>A
  hgvsp: ENSP00000392322.2:p.Glu456Lys
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1270G>A
  hgvsp: ENSP00000418923.1:p.Glu424Lys
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1321G>A
  hgvsp: ENSP00000418996.1:p.Glu441Lys
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1612G>A
  hgvsp: ENSP00000395683.2:p.Glu538Lys
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1721G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1549G>A
  hgvsp: ENSP00000451848.1:p.Glu517Lys
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1369G>A
  hgvsp: ENSP00000417482.1:p.Glu457Lys
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1329G>A
  hgvsp: ENSP00000372664.3:p.Glu444Lys
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.412G>A
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu517Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-31912613-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912613
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912613
    reference: chr 6
allele count: 1
allele frequency: 8.605555746790128e-6
allele num: 116204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1333A>G
  hgvsp: ENSP00000372664.3:p.Asp445Gly
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.416A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1725A>G
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1370A>G
  hgvsp: ENSP00000392322.2:p.Asp457Gly
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1616A>G
  hgvsp: ENSP00000395683.2:p.Asp539Gly
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.2012A>G
  hgvsp: ENSP00000299367.5:p.Asp671Gly
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1553A>G
  hgvsp: ENSP00000410815.1:p.Asp518Gly
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1274A>G
  hgvsp: ENSP00000418923.1:p.Asp425Gly
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1553A>G
  hgvsp: ENSP00000451848.1:p.Asp518Gly
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1373A>G
  hgvsp: ENSP00000417482.1:p.Asp458Gly
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1325A>G
  hgvsp: ENSP00000418996.1:p.Asp442Gly
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2288A>G
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp518Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

6-31912617-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912617
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912617
    reference: chr 6
allele count: 1
allele frequency: 8.60540763815982e-6
allele num: 116206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.420G>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1557G>C
  hgvsp: ENSP00000410815.1:p.Glu519Asp
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1337G>C
  hgvsp: ENSP00000372664.3:p.Glu446Asp
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1729G>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1278G>C
  hgvsp: ENSP00000418923.1:p.Glu426Asp
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2292G>C
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1620G>C
  hgvsp: ENSP00000395683.2:p.Glu540Asp
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1557G>C
  hgvsp: ENSP00000451848.1:p.Glu519Asp
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1377G>C
  hgvsp: ENSP00000417482.1:p.Glu459Asp
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1329G>C
  hgvsp: ENSP00000418996.1:p.Glu443Asp
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.2016G>C
  hgvsp: ENSP00000299367.5:p.Glu672Asp
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1374G>C
  hgvsp: ENSP00000392322.2:p.Glu458Asp
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu519Asp
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

6-31912623-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912623
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912623
    reference: chr 6
allele count: 1
allele frequency: 8.605703860518751e-6
allele num: 116202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1626C>T
  hgvsp: ENST00000442278.2:c.1626C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1563C>T
  hgvsp: ENST00000556679.1:c.1563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1380C>T
  hgvsp: ENST00000452323.2:c.1380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.2022C>T
  hgvsp: ENST00000299367.5:c.2022C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.426C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1383C>T
  hgvsp: ENST00000497706.1:c.1383C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1343C>T
  hgvsp: ENST00000383177.3:c.1343C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1335C>T
  hgvsp: ENST00000477310.1:c.1335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1284C>T
  hgvsp: ENST00000469372.1:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1563C>T
  hgvsp: ENST00000456570.1:c.1563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1735C>T
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2298C>T
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro521Pro
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

6-31912630-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31912630
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 31912630
    reference: chr 6
allele count: 1
allele frequency: 8.606000103272e-6
allele num: 116198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000418996
  ensembl transcript: ENST00000477310
  gene symbol: CFB
  hgvsc: ENST00000477310.1:c.1342G>A
  hgvsp: ENSP00000418996.1:p.Gly448Ser
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000392322
  ensembl transcript: ENST00000452323
  gene symbol: C2
  hgvsc: ENST00000452323.2:c.1387G>A
  hgvsp: ENSP00000392322.2:p.Gly463Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000395683
  ensembl transcript: ENST00000442278
  gene symbol: C2
  hgvsc: ENST00000442278.2:c.1633G>A
  hgvsp: ENSP00000395683.2:p.Gly545Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000468407
  gene symbol: C2
  hgvsc: ENST00000468407.1:n.433G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418332
  ensembl transcript: ENST00000482060
  gene symbol: C2
  hgvsc: ENST00000482060.1:c.*1742G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166278
  ensembl transcript: ENST00000486124
  gene symbol: C2
  hgvsc: ENST00000486124.1:n.2305G>A
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000243649
  ensembl protein: ENSP00000451848
  ensembl transcript: ENST00000556679
  gene symbol: CFB
  hgvsc: ENST00000556679.1:c.1570G>A
  hgvsp: ENSP00000451848.1:p.Gly524Ser
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000372664
  ensembl transcript: ENST00000383177
  gene symbol: C2
  hgvsc: ENST00000383177.3:c.1350G>A
  hgvsp: ENSP00000372664.3:p.Gly451Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000244255
  ensembl protein: ENSP00000410815
  ensembl transcript: ENST00000456570
  gene symbol: CFB
  hgvsc: ENST00000456570.1:c.1570G>A
  hgvsp: ENSP00000410815.1:p.Gly524Ser
  variant of: http://identifiers.org/hgnc/1037
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000299367
  ensembl transcript: ENST00000299367
  gene symbol: C2
  hgvsc: ENST00000299367.5:c.2029G>A
  hgvsp: ENSP00000299367.5:p.Gly677Arg
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000417482
  ensembl transcript: ENST00000497706
  gene symbol: C2
  hgvsc: ENST00000497706.1:c.1390G>A
  hgvsp: ENST00000497706.1:c.1390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166278
  ensembl protein: ENSP00000418923
  ensembl transcript: ENST00000469372
  gene symbol: C2
  hgvsc: ENST00000469372.1:c.1291G>A
  hgvsp: ENSP00000418923.1:p.Gly431Arg
  variant of: http://identifiers.org/hgnc/1248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly524Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

6-109700807-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109700807
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 109700807
    reference: chr 6
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000314177
  ensembl transcript: ENST00000324953
  gene symbol: CD164
  hgvsc: ENST00000324953.5:c.234T>C
  hgvsp: ENST00000324953.5:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000402237
  ensembl transcript: ENST00000413644
  gene symbol: CD164
  hgvsc: ENST00000413644.2:c.234T>C
  hgvsp: ENST00000413644.2:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000275080
  ensembl transcript: ENST00000275080
  gene symbol: CD164
  hgvsc: ENST00000275080.7:c.234T>C
  hgvsp: ENST00000275080.7:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000427546
  ensembl transcript: ENST00000512821
  gene symbol: CD164
  hgvsc: ENST00000512821.1:c.234T>C
  hgvsp: ENST00000512821.1:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000357957
  ensembl transcript: ENST00000368961
  gene symbol: CD164
  hgvsc: ENST00000368961.5:c.234T>C
  hgvsp: ENST00000368961.5:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000422999
  ensembl transcript: ENST00000504373
  gene symbol: CD164
  hgvsc: ENST00000504373.1:c.132T>C
  hgvsp: ENST00000504373.1:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000512212
  gene symbol: CD164
  hgvsc: ENST00000512212.1:n.267T>C
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000499860
  gene symbol: CD164
  hgvsc: ENST00000499860.2:n.913T>C
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000506649
  gene symbol: CD164
  hgvsc: ENST00000506649.1:n.251T>C
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000309376
  ensembl transcript: ENST00000310786
  gene symbol: CD164
  hgvsc: ENST00000310786.4:c.234T>C
  hgvsp: ENST00000310786.4:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1632
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29822
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr78Thr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

6-109700808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109700808
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 109700808
    reference: chr 6
allele count: 9
allele frequency: 7.425374981436562e-5
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000402237
  ensembl transcript: ENST00000413644
  gene symbol: CD164
  hgvsc: ENST00000413644.2:c.233C>T
  hgvsp: ENSP00000402237.2:p.Thr78Ile
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000422999
  ensembl transcript: ENST00000504373
  gene symbol: CD164
  hgvsc: ENST00000504373.1:c.131C>T
  hgvsp: ENSP00000422999.1:p.Thr44Ile
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000512212
  gene symbol: CD164
  hgvsc: ENST00000512212.1:n.266C>T
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000357957
  ensembl transcript: ENST00000368961
  gene symbol: CD164
  hgvsc: ENST00000368961.5:c.233C>T
  hgvsp: ENSP00000357957.5:p.Thr78Ile
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000275080
  ensembl transcript: ENST00000275080
  gene symbol: CD164
  hgvsc: ENST00000275080.7:c.233C>T
  hgvsp: ENSP00000275080.7:p.Thr78Ile
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000506649
  gene symbol: CD164
  hgvsc: ENST00000506649.1:n.250C>T
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000309376
  ensembl transcript: ENST00000310786
  gene symbol: CD164
  hgvsc: ENST00000310786.4:c.233C>T
  hgvsp: ENSP00000309376.4:p.Thr78Ile
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000314177
  ensembl transcript: ENST00000324953
  gene symbol: CD164
  hgvsc: ENST00000324953.5:c.233C>T
  hgvsp: ENSP00000314177.5:p.Thr78Ile
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000427546
  ensembl transcript: ENST00000512821
  gene symbol: CD164
  hgvsc: ENST00000512821.1:c.233C>T
  hgvsp: ENSP00000427546.1:p.Thr78Ile
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000499860
  gene symbol: CD164
  hgvsc: ENST00000499860.2:n.912C>T
  variant of: http://identifiers.org/hgnc/1632
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8861
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr78Ile
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

6-109700810-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109700810
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 109700810
    reference: chr 6
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000422999
  ensembl transcript: ENST00000504373
  gene symbol: CD164
  hgvsc: ENST00000504373.1:c.129T>C
  hgvsp: ENST00000504373.1:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000357957
  ensembl transcript: ENST00000368961
  gene symbol: CD164
  hgvsc: ENST00000368961.5:c.231T>C
  hgvsp: ENST00000368961.5:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000314177
  ensembl transcript: ENST00000324953
  gene symbol: CD164
  hgvsc: ENST00000324953.5:c.231T>C
  hgvsp: ENST00000324953.5:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000427546
  ensembl transcript: ENST00000512821
  gene symbol: CD164
  hgvsc: ENST00000512821.1:c.231T>C
  hgvsp: ENST00000512821.1:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000275080
  ensembl transcript: ENST00000275080
  gene symbol: CD164
  hgvsc: ENST00000275080.7:c.231T>C
  hgvsp: ENST00000275080.7:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000499860
  gene symbol: CD164
  hgvsc: ENST00000499860.2:n.910T>C
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000309376
  ensembl transcript: ENST00000310786
  gene symbol: CD164
  hgvsc: ENST00000310786.4:c.231T>C
  hgvsp: ENST00000310786.4:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000506649
  gene symbol: CD164
  hgvsc: ENST00000506649.1:n.248T>C
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000402237
  ensembl transcript: ENST00000413644
  gene symbol: CD164
  hgvsc: ENST00000413644.2:c.231T>C
  hgvsp: ENST00000413644.2:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000512212
  gene symbol: CD164
  hgvsc: ENST00000512212.1:n.264T>C
  variant of: http://identifiers.org/hgnc/1632
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn77Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

6-109700818-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109700818
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 109700818
    reference: chr 6
allele count: 2
allele frequency: 1.650273945474949e-5
allele num: 121192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000512212
  gene symbol: CD164
  hgvsc: ENST00000512212.1:n.256G>A
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000402237
  ensembl transcript: ENST00000413644
  gene symbol: CD164
  hgvsc: ENST00000413644.2:c.223G>A
  hgvsp: ENSP00000402237.2:p.Val75Ile
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000422999
  ensembl transcript: ENST00000504373
  gene symbol: CD164
  hgvsc: ENST00000504373.1:c.121G>A
  hgvsp: ENSP00000422999.1:p.Val41Ile
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000427546
  ensembl transcript: ENST00000512821
  gene symbol: CD164
  hgvsc: ENST00000512821.1:c.223G>A
  hgvsp: ENSP00000427546.1:p.Val75Ile
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000309376
  ensembl transcript: ENST00000310786
  gene symbol: CD164
  hgvsc: ENST00000310786.4:c.223G>A
  hgvsp: ENSP00000309376.4:p.Val75Ile
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000275080
  ensembl transcript: ENST00000275080
  gene symbol: CD164
  hgvsc: ENST00000275080.7:c.223G>A
  hgvsp: ENSP00000275080.7:p.Val75Ile
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000499860
  gene symbol: CD164
  hgvsc: ENST00000499860.2:n.902G>A
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000506649
  gene symbol: CD164
  hgvsc: ENST00000506649.1:n.240G>A
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000314177
  ensembl transcript: ENST00000324953
  gene symbol: CD164
  hgvsc: ENST00000324953.5:c.223G>A
  hgvsp: ENSP00000314177.5:p.Val75Ile
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000357957
  ensembl transcript: ENST00000368961
  gene symbol: CD164
  hgvsc: ENST00000368961.5:c.223G>A
  hgvsp: ENSP00000357957.5:p.Val75Ile
  variant of: http://identifiers.org/hgnc/1632
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18834
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val75Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

6-109700820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109700820
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 109700820
    reference: chr 6
allele count: 31
allele frequency: 2.558093477686824e-4
allele num: 121184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000427546
  ensembl transcript: ENST00000512821
  gene symbol: CD164
  hgvsc: ENST00000512821.1:c.221G>A
  hgvsp: ENSP00000427546.1:p.Ser74Asn
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000357957
  ensembl transcript: ENST00000368961
  gene symbol: CD164
  hgvsc: ENST00000368961.5:c.221G>A
  hgvsp: ENSP00000357957.5:p.Ser74Asn
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000309376
  ensembl transcript: ENST00000310786
  gene symbol: CD164
  hgvsc: ENST00000310786.4:c.221G>A
  hgvsp: ENSP00000309376.4:p.Ser74Asn
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000422999
  ensembl transcript: ENST00000504373
  gene symbol: CD164
  hgvsc: ENST00000504373.1:c.119G>A
  hgvsp: ENSP00000422999.1:p.Ser40Asn
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000499860
  gene symbol: CD164
  hgvsc: ENST00000499860.2:n.900G>A
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000314177
  ensembl transcript: ENST00000324953
  gene symbol: CD164
  hgvsc: ENST00000324953.5:c.221G>A
  hgvsp: ENSP00000314177.5:p.Ser74Asn
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000275080
  ensembl transcript: ENST00000275080
  gene symbol: CD164
  hgvsc: ENST00000275080.7:c.221G>A
  hgvsp: ENSP00000275080.7:p.Ser74Asn
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000402237
  ensembl transcript: ENST00000413644
  gene symbol: CD164
  hgvsc: ENST00000413644.2:c.221G>A
  hgvsp: ENSP00000402237.2:p.Ser74Asn
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000506649
  gene symbol: CD164
  hgvsc: ENST00000506649.1:n.238G>A
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000512212
  gene symbol: CD164
  hgvsc: ENST00000512212.1:n.254G>A
  variant of: http://identifiers.org/hgnc/1632
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser74Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

6-109700823-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109700823
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 109700823
    reference: chr 6
allele count: 2
allele frequency: 1.650491846570278e-5
allele num: 121176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000357957
  ensembl transcript: ENST00000368961
  gene symbol: CD164
  hgvsc: ENST00000368961.5:c.218T>A
  hgvsp: ENSP00000357957.5:p.Val73Asp
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000275080
  ensembl transcript: ENST00000275080
  gene symbol: CD164
  hgvsc: ENST00000275080.7:c.218T>A
  hgvsp: ENSP00000275080.7:p.Val73Asp
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000499860
  gene symbol: CD164
  hgvsc: ENST00000499860.2:n.897T>A
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000506649
  gene symbol: CD164
  hgvsc: ENST00000506649.1:n.235T>A
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000427546
  ensembl transcript: ENST00000512821
  gene symbol: CD164
  hgvsc: ENST00000512821.1:c.218T>A
  hgvsp: ENSP00000427546.1:p.Val73Asp
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000314177
  ensembl transcript: ENST00000324953
  gene symbol: CD164
  hgvsc: ENST00000324953.5:c.218T>A
  hgvsp: ENSP00000314177.5:p.Val73Asp
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000402237
  ensembl transcript: ENST00000413644
  gene symbol: CD164
  hgvsc: ENST00000413644.2:c.218T>A
  hgvsp: ENSP00000402237.2:p.Val73Asp
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000135535
  ensembl transcript: ENST00000512212
  gene symbol: CD164
  hgvsc: ENST00000512212.1:n.251T>A
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000422999
  ensembl transcript: ENST00000504373
  gene symbol: CD164
  hgvsc: ENST00000504373.1:c.116T>A
  hgvsp: ENSP00000422999.1:p.Val39Asp
  variant of: http://identifiers.org/hgnc/1632
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135535
  ensembl protein: ENSP00000309376
  ensembl transcript: ENST00000310786
  gene symbol: CD164
  hgvsc: ENST00000310786.4:c.218T>A
  hgvsp: ENSP00000309376.4:p.Val73Asp
  variant of: http://identifiers.org/hgnc/1632
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val73Asp
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A

GenotypeDepth
all individuals: 208
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2758
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4592
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3472
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6011
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15396
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 744
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3819
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11394
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9094
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: 1.587906504065041e-5
allele num: 62976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 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: 8444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.594e0

DP
type: SiteQuality
SIO_000300: 2.336729e6

QD
type: SiteQuality
SIO_000300: 1.367e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.76e-1

GenotypeDepth
all individuals: 4803
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3487
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15400
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4629
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6027
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3843
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588966218578193e-5
allele num: 62934
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.432e1

FS
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.305e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.49e-1

DP
type: SiteQuality
SIO_000300: 2.336634e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

GenotypeDepth
all individuals: 1557
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15431
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 699
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1522
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3896
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10166
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6106
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3518
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9094
num of homozygotes: 0

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

Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.747335313646689e-4
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East Asian
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South Asian
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African
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ReadPosRankSum
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

African
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South Asian
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European (Finnish)
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num of homozygotes: 0

Latino
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East Asian
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European (Non-Finnish)
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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DP
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MQ
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -3.1e-1

GenotypeDepth
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variant carriers: 2

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 3.159158400202186e-5
allele num: 63308
num of homozygotes: 0

African
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allele num: 9156
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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Latino
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 7.422849742569253e-4
allele num: 63318
num of homozygotes: 0

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

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

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

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

South Asian
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African
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East Asian
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European (Non-Finnish)
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Latino
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FS
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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QD
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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African
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European (Finnish)
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QD
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DP
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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East Asian
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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DP
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MQ
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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QD
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GenotypeDepth
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579229967467863e-5
allele num: 63322
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.096e0

QD
type: SiteQuality
SIO_000300: 1.095e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

FS
type: SiteQuality
SIO_000300: 2.423e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

DP
type: SiteQuality
SIO_000300: 2.049795e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 6
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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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 10974
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variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63318
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.091226538629419e-4
allele num: 9164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.128e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 2.049171e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.126e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.18e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 2573
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variant carriers: 0

GenotypeQuality
all individuals: 3221
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579629103086595e-5
allele num: 63306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 6.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.04871e6

FS
type: SiteQuality
SIO_000300: 9.851000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -7.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

VQSLOD
type: SiteQuality
SIO_000300: -1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.18e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeDepth
all individuals: 4071
bin: 3.75e1
variant carriers: 3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 93
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GenotypeQuality
all individuals: 181
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variant carriers: 0

GenotypeQuality
all individuals: 169
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variant carriers: 0

GenotypeQuality
all individuals: 133
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variant carriers: 0

GenotypeQuality
all individuals: 152
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GenotypeQuality
all individuals: 27820
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 73
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GenotypeQuality
all individuals: 7412
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 20
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 147
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GenotypeQuality
all individuals: 1421
bin: 9.25e1
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GenotypeQuality
all individuals: 10976
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 2504
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3145
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GenotypeQuality
all individuals: 1030
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.757469244288225e-4
allele num: 11380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.533329111118148e-4
allele num: 63158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 2.034174e6

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

FS
type: SiteQuality
SIO_000300: 1.644e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.4e-2

QD
type: SiteQuality
SIO_000300: 1.349e1

GenotypeDepth
all individuals: 212
bin: 9.25e1
variant carriers: 86

GenotypeDepth
all individuals: 1380
bin: 9.75e1
variant carriers: 990

GenotypeDepth
all individuals: 8079
bin: 2.25e1
variant carriers: 210

GenotypeDepth
all individuals: 1772
bin: 4.75e1
variant carriers: 659

GenotypeQuality
all individuals: 188
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 20
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variant carriers: 4

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 3.25e1
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GenotypeQuality
all individuals: 27248
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variant carriers: 7

GenotypeQuality
all individuals: 641
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 13798
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variant carriers: 6321

GenotypeQuality
all individuals: 93
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variant carriers: 4

GenotypeQuality
all individuals: 547
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variant carriers: 2

GenotypeQuality
all individuals: 121
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GenotypeQuality
all individuals: 2740
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variant carriers: 15

GenotypeQuality
all individuals: 1065
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variant carriers: 19

GenotypeQuality
all individuals: 2227
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variant carriers: 10

GenotypeQuality
all individuals: 7018
bin: 6.75e1
variant carriers: 19

GenotypeQuality
all individuals: 144
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variant carriers: 3

GenotypeQuality
all individuals: 99
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variant carriers: 7

GenotypeQuality
all individuals: 759
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variant carriers: 6

GenotypeQuality
all individuals: 1755
bin: 8.25e1
variant carriers: 17

Latino
type: Population
allele count: 322
allele frequency: 2.830022851116189e-2
allele num: 11378
num of homozygotes: 8

European (Non-Finnish)
type: Population
allele count: 3130
allele frequency: 4.957551951343132e-2
allele num: 63136
num of homozygotes: 81

South Asian
type: Population
allele count: 1957
allele frequency: 1.206981620821512e-1
allele num: 16214
num of homozygotes: 172

African
type: Population
allele count: 256
allele frequency: 2.805172035941267e-2
allele num: 9126
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 993
allele frequency: 1.509577379142596e-1
allele num: 6578
num of homozygotes: 77

East Asian
type: Population
allele count: 42
allele frequency: 4.941176470588235e-3
allele num: 8500
num of homozygotes: 0

Other
type: Population
allele count: 74
allele frequency: 8.525345622119816e-2
allele num: 868
num of homozygotes: 4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.335e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

BaseQRankSum
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SIO_000300: -2.876e0

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.34e-2

FS
type: SiteQuality
SIO_000300: 2.505e0

DP
type: SiteQuality
SIO_000300: 2.06931e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 184
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GenotypeQuality
all individuals: 672
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2539
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GenotypeQuality
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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: 3173
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 984
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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: 8633
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GenotypeQuality
all individuals: 21731
bin: 6.25e1
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.600358480299587e-5
allele num: 62486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16048
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.7e-3

InbreedingCoeff
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DP
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MQRankSum
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MQ
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SIO_000300: 6.0e1

QD
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BaseQRankSum
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SIO_000300: -3.847e0

ReadPosRankSum
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SIO_000300: 2.24e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2536
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8996
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Latino
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
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.601178467351971e-5
allele num: 62454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.81e-1

InbreedingCoeff
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SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 6.215e0

QD
type: SiteQuality
SIO_000300: 1.231e1

MQ
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SIO_000300: 5.934e1

MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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SIO_000300: 1.74902e6

ClippingRankSum
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SIO_000300: 3.48e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8629
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GenotypeQuality
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GenotypeQuality
all individuals: 3305
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GenotypeQuality
all individuals: 198
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62468
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8996
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.247349382562056e-4
allele num: 16034
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
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SIO_000300: 4.8e-2

VQSLOD
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SIO_000300: 9.84e-1

MQRankSum
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SIO_000300: 4.96e-1

DP
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SIO_000300: 1.733802e6

ClippingRankSum
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SIO_000300: 8.0e-2

BaseQRankSum
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SIO_000300: -1.629e0

QD
type: SiteQuality
SIO_000300: 1.264e1

FS
type: SiteQuality
SIO_000300: 2.847e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.601588776065857e-5
allele num: 62438
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16024
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8986
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11114
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.764e0

MQRankSum
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SIO_000300: 5.13e-1

ReadPosRankSum
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QD
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FS
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SIO_000300: 3.098e0

MQ
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SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

ClippingRankSum
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SIO_000300: -2.08e-1

DP
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SIO_000300: 1.716556e6

GenotypeDepth
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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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GenotypeQuality
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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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16024
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8986
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11114
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.192463629859289e-4
allele num: 8386
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.203177552131715e-5
allele num: 62438
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.098e0

QD
type: SiteQuality
SIO_000300: 1.685e1

BaseQRankSum
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SIO_000300: -2.764e0

MQRankSum
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SIO_000300: 5.13e-1

InbreedingCoeff
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SIO_000300: 1.03e-2

MQ
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SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 2.33e0

ClippingRankSum
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SIO_000300: -2.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 1.716556e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 736
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.509017718469682e-5
allele num: 63098
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8968
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.963e1

VQSLOD
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SIO_000300: 8.94e-1

FS
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
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ClippingRankSum
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SIO_000300: -7.27e-1

BaseQRankSum
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SIO_000300: -1.72e0

DP
type: SiteQuality
SIO_000300: 3.661588e6

QD
type: SiteQuality
SIO_000300: 1.047e1

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.74737578726382e-5
allele num: 11432
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63094
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.499e-1

BaseQRankSum
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FS
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MQ
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SIO_000300: 5.919e1

InbreedingCoeff
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SIO_000300: 6.2e-3

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

QD
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DP
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SIO_000300: 3.662458e6

GenotypeDepth
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variant carriers: 270

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: 913

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 75
allele frequency: 6.557090400419654e-3
allele num: 11438
num of homozygotes: 1

South Asian
type: Population
allele count: 15
allele frequency: 9.238728750923873e-4
allele num: 16236
num of homozygotes: 0

African
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allele count: 810
allele frequency: 8.94237138441157e-2
allele num: 9058
num of homozygotes: 34

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
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allele frequency: 3.456221198156682e-3
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
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allele count: 53
allele frequency: 8.391386953768208e-4
allele num: 63160
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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ClippingRankSum
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DP
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QD
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SIO_000300: 1.258e1

GenotypeDepth
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.847745750184775e-4
allele num: 16236
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 63170
num of homozygotes: 0

Other
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European (Finnish)
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BaseQRankSum
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DP
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 51606
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variant carriers: 1

GenotypeQuality
all individuals: 758
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9096
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.582178343142839e-5
allele num: 63204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 3.685349e6

MQ
type: SiteQuality
SIO_000300: 5.901e1

VQSLOD
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SIO_000300: -2.108e0

ReadPosRankSum
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SIO_000300: -1.766e0

InbreedingCoeff
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SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 2.799e0

ClippingRankSum
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SIO_000300: 1.7e0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.279e1

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 51607
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9100
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175364362952515e-4
allele num: 8508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.685795e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.37e-1

FS
type: SiteQuality
SIO_000300: 4.194e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.488e0

QD
type: SiteQuality
SIO_000300: 1.024e1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.581627811343435e-5
allele num: 63226
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

DP
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SIO_000300: 3.686625e6

QD
type: SiteQuality
SIO_000300: 1.146e1

BaseQRankSum
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SIO_000300: -1.371e0

MQRankSum
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SIO_000300: 6.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.65e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 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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variant carriers: 2

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16256
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.162055335968379e-5
allele num: 63250
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 6.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 3.687664e6

VQSLOD
type: SiteQuality
SIO_000300: 7.37e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
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SIO_000300: -3.829e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.21e-1

FS
type: SiteQuality
SIO_000300: 1.945e0

QD
type: SiteQuality
SIO_000300: 1.155e1

GenotypeDepth
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bin: 9.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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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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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: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.580677794638341e-5
allele num: 63264
num of homozygotes: 0

InbreedingCoeff
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DP
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 9.04e-1

QD
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SIO_000300: 9.67e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63270
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.730574471800244e-5
allele num: 11454
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.63e-1

MQRankSum
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DP
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QD
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MQ
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SIO_000300: 5.91e1

InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16260
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African
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Other
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East Asian
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BaseQRankSum
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FS
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QD
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 3

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.474052988832932e-4
allele num: 9134
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63278
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.111e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
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SIO_000300: 2.72e0

DP
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SIO_000300: 3.688971e6

InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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SIO_000300: 1.37e-1

ClippingRankSum
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SIO_000300: 2.79e-1

MQRankSum
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SIO_000300: 2.74e-1

BaseQRankSum
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SIO_000300: -1.688e0

QD
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SIO_000300: 1.311e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.900391859436228e-5
allele num: 63288
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

DP
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SIO_000300: 3.689232e6

VQSLOD
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SIO_000300: 1.2e0

FS
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SIO_000300: 1.739e0

QD
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SIO_000300: 1.144e1

InbreedingCoeff
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SIO_000300: 1.1e-3

ClippingRankSum
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SIO_000300: -4.56e-1

BaseQRankSum
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SIO_000300: -2.694e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 7.25e1
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GenotypeQuality
all individuals: 777
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63300
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.729050279329609e-5
allele num: 11456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.914e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 4.45e-1

MQRankSum
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SIO_000300: 2.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.33e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

DP
type: SiteQuality
SIO_000300: 3.689528e6

GenotypeDepth
all individuals: 5638
bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 2341
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 51617
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.149305128520478e-5
allele num: 16262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.216e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

DP
type: SiteQuality
SIO_000300: 3.689838e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

GenotypeDepth
all individuals: 2382
bin: 8.25e1
variant carriers: 99

GenotypeDepth
all individuals: 1884
bin: 8.75e1
variant carriers: 117

GenotypeDepth
all individuals: 4064
bin: 7.25e1
variant carriers: 76

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 872
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variant carriers: 0

GenotypeQuality
all individuals: 51799
bin: 9.75e1
variant carriers: 1729

GenotypeQuality
all individuals: 719
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GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 1

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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GenotypeQuality
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GenotypeQuality
all individuals: 1150
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GenotypeQuality
all individuals: 7
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variant carriers: 1

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1186
allele frequency: 1.873321750118465e-2
allele num: 63310
num of homozygotes: 31

Other
type: Population
allele count: 25
allele frequency: 2.86697247706422e-2
allele num: 872
num of homozygotes: 2

African
type: Population
allele count: 72
allele frequency: 7.870572802798426e-3
allele num: 9148
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.664648910411622e-3
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

South Asian
type: Population
allele count: 37
allele frequency: 2.275242897552577e-3
allele num: 16262
num of homozygotes: 2

Latino
type: Population
allele count: 445
allele frequency: 3.884427374301676e-2
allele num: 11456
num of homozygotes: 9

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.99e-2

FS
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SIO_000300: 0.0e0

VQSLOD
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DP
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SIO_000300: 3.778615e6

MQRankSum
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SIO_000300: 2.12e-1

ClippingRankSum
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SIO_000300: -2.3e-1

BaseQRankSum
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SIO_000300: 3.3e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
all individuals: 3
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 757
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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: 1444
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579229967467863e-5
allele num: 63322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.722655e6

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 7.655e0

InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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SIO_000300: 1.593e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 872
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63322
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.173984503404555e-4
allele num: 8518
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
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FS
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SIO_000300: 2.124e0

BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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SIO_000300: 2.32e0

InbreedingCoeff
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SIO_000300: -8.0e-4

QD
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SIO_000300: 1.303e1

DP
type: SiteQuality
SIO_000300: 3.722735e6

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 577
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GenotypeQuality
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 51710
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 788
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GenotypeQuality
all individuals: 894
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 1170
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 774
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GenotypeQuality
all individuals: 758
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.579229967467863e-5
allele num: 63322
num of homozygotes: 0

MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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SIO_000300: -9.577e-1

MQRankSum
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SIO_000300: -1.39e0

FS
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SIO_000300: 6.029e0

DP
type: SiteQuality
SIO_000300: 3.722918e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63322
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

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

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

Latino
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allele num: 11460
num of homozygotes: 0

Other
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South Asian
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ReadPosRankSum
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SIO_000300: 6.18e-1

MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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QD
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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SIO_000300: 3.722901e6

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
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)
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allele count: 0
allele frequency: 0.0e0
allele num: 63322
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele num: 6610
num of homozygotes: 0

South Asian
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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

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
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ReadPosRankSum
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SIO_000300: -5.69e-1

FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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SIO_000300: 1.541e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.745200698080279e-4
allele num: 11460
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63322
num of homozygotes: 0

South Asian
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num of homozygotes: 0

African
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allele count: 10
allele frequency: 1.091703056768559e-3
allele num: 9160
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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QD
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FS
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -4.43e-1

VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8518
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 num: 63324
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

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

Latino
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African
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East Asian
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European (Non-Finnish)
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allele num: 63322
num of homozygotes: 0

European (Finnish)
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South Asian
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QD
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BaseQRankSum
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MQ
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51717
bin: 9.75e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.148548942449582e-5
allele num: 16264
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63322
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.139e0

VQSLOD
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SIO_000300: 1.41e-1

QD
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SIO_000300: 1.027e1

BaseQRankSum
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SIO_000300: -6.078e0

InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

MQRankSum
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SIO_000300: 9.409999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

DP
type: SiteQuality
SIO_000300: 3.723607e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63322
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.148548942449582e-5
allele num: 16264
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.808e1

DP
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SIO_000300: 3.72361e6

InbreedingCoeff
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SIO_000300: -1.0e-3

ReadPosRankSum
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FS
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SIO_000300: 1.081e0

ClippingRankSum
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SIO_000300: 3.1e-1

VQSLOD
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SIO_000300: 8.0e-2

BaseQRankSum
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SIO_000300: 2.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.148548942449582e-5
allele num: 16264
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63324
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

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

Other
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allele count: 0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e-1

ReadPosRankSum
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FS
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SIO_000300: 7.061e0

InbreedingCoeff
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SIO_000300: -1.1e-3

ClippingRankSum
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SIO_000300: -5.43e-1

MQ
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SIO_000300: 5.961e1

DP
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SIO_000300: 3.723727e6

BaseQRankSum
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SIO_000300: -3.703e0

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

QD
type: SiteQuality
SIO_000300: 1.67e1

GenotypeDepth
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bin: 8.75e1
variant carriers: 1

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63322
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.173708920187793e-4
allele num: 8520
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
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DP
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SIO_000300: 3.723846e6

ReadPosRankSum
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ClippingRankSum
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QD
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SIO_000300: 1.409e1

BaseQRankSum
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SIO_000300: -1.03e-1

MQ
type: SiteQuality
SIO_000300: 5.992e1

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.56e-1

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 845
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 763
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.173708920187793e-4
allele num: 8520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63322
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 7.25e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.173708920187793e-4
allele num: 8520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63322
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

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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num of homozygotes: 0

Other
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BaseQRankSum
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SIO_000300: -3.475e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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DP
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QD
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FS
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MQ
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SIO_000300: 5.948e1

ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.579229967467863e-5
allele num: 63322
num of homozygotes: 0

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

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

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

South Asian
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African
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num of homozygotes: 0

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

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

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

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.148548942449582e-5
allele num: 16264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9164
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.723938e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

BaseQRankSum
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SIO_000300: -5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

FS
type: SiteQuality
SIO_000300: 1.327e0

VQSLOD
type: SiteQuality
SIO_000300: -1.099e0

QD
type: SiteQuality
SIO_000300: 5.87e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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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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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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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579229967467863e-5
allele num: 63322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.33e-1

DP
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SIO_000300: 3.724047e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.36e0

QD
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SIO_000300: 1.341e1

ClippingRankSum
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SIO_000300: 1.56e0

InbreedingCoeff
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SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 4.654e0

MQRankSum
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SIO_000300: -3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.46e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 585
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variant carriers: 0

African
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allele count: 1
allele frequency: 1.091464745688714e-4
allele num: 9162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.72437e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.077e0

QD
type: SiteQuality
SIO_000300: 1.323e1

FS
type: SiteQuality
SIO_000300: 2.784e0

VQSLOD
type: SiteQuality
SIO_000300: -2.848e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.083e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.407e0

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

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1304
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.081567e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.537000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 1.315e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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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
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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: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.200300075018755e-4
allele num: 66650
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

QD
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SIO_000300: 1.082e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

South Asian
type: Population
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num of homozygotes: 0

Other
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 0.0e0

QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.28e0

FS
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BaseQRankSum
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SIO_000300: 1.03e0

MQRankSum
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SIO_000300: 3.44e-1

ReadPosRankSum
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VQSLOD
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MQ
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SIO_000300: 5.903e1

DP
type: SiteQuality
SIO_000300: 2.081406e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 2
allele frequency: 2.320724065908564e-4
allele num: 8618
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

FS
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1300
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variant carriers: 0

East Asian
type: Population
allele count: 31
allele frequency: 3.597122302158274e-3
allele num: 8618
num of homozygotes: 0

Latino
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: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.75e0

QD
type: SiteQuality
SIO_000300: 1.105e1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.082318e6

FS
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.91e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

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

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

GenotypeQuality
all individuals: 172
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8834
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3960
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2909
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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