14-31177008-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177008
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177008
    reference: chr 14
allele count: 1
allele frequency: 6.180469715698394e-5
allele num: 16180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-188T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-188T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-188T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-188T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-188T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.63-15T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-188T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-188T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+1917T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-188T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-188T>A
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34729
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

14-31177022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177022
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177022
    reference: chr 14
allele count: 2
allele frequency: 1.03982530934803e-4
allele num: 19234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-174G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.63-1G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-174G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-174G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-174G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-174G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-174G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-174G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-174G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+1931G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-174G>A
  variant of: http://identifiers.org/hgnc/20726
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18764
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.63-1G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

14-31177026-TGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177026
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177024
    reference: chr 14
allele count: 2
allele frequency: 9.722897423432182e-5
allele num: 20570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.67_68delGA
  hgvsp: ENSP00000450546.1:p.Asp23TyrfsTer64
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-169_1278-168delGA
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-169_1554-168delGA
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-169_*974-168delGA
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-169_1353-168delGA
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-169_999-168delGA
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-169_*1024-168delGA
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-169_*1425-168delGA
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-169_1377-168delGA
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+1936_*1112+1937delGA
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-169_*1318-168delGA
  variant of: http://identifiers.org/hgnc/20726
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp23TyrfsTer64
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: TGA
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

14-31177029-T-TCTTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177029
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177034
    reference: chr 14
allele count: 2
allele frequency: 9.239582370876836e-5
allele num: 21646
alternate allele: TCTTTC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-167_1377-166insCTTTC
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-167_999-166insCTTTC
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-167_*1425-166insCTTTC
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.69_70insCTTTC
  hgvsp: ENSP00000450546.1:p.Thr24LeufsTer26
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-167_*1024-166insCTTTC
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-167_*1318-166insCTTTC
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-167_*974-166insCTTTC
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-167_1554-166insCTTTC
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-167_1278-166insCTTTC
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-167_1353-166insCTTTC
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+1938_*1112+1939insCTTTC
  variant of: http://identifiers.org/hgnc/20726
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr24LeufsTer26
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-31177031-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177031
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177031
    reference: chr 14
allele count: 1
allele frequency: 4.49599856128046e-5
allele num: 22242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-165C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-165C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-165C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-165C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-165C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-165C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.71C>A
  hgvsp: ENSP00000450546.1:p.Thr24Asn
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-165C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-165C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+1940C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-165C>A
  variant of: http://identifiers.org/hgnc/20726
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25621
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21751
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr24Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

14-31177032-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177032
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177032
    reference: chr 14
allele count: 12
allele frequency: 5.283550545966889e-4
allele num: 22712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.72C>T
  hgvsp: ENST00000554437.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-164C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-164C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-164C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+1941C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-164C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-164C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-164C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-164C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-164C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-164C>T
  variant of: http://identifiers.org/hgnc/20726
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26362
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr24Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

14-31177035-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177035
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177035
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 24036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-161T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-161T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-161T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-161T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-161T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-161T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-161T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-161T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.75T>A
  hgvsp: ENSP00000450546.1:p.His25Gln
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-161T>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+1944T>A
  variant of: http://identifiers.org/hgnc/20726
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 27910
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19053
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His25Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

14-31177039-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177039
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177039
    reference: chr 14
allele count: 1
allele frequency: 3.88681592039801e-5
allele num: 25728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-157A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-157A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-157A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-157A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-157A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.79A>G
  hgvsp: ENSP00000450546.1:p.Ser27Gly
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+1948A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-157A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-157A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-157A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-157A>G
  variant of: http://identifiers.org/hgnc/20726
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16806
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser27Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

14-31177041-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177041
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177041
    reference: chr 14
allele count: 5
allele frequency: 1.868600044846401e-4
allele num: 26758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.81C>T
  hgvsp: ENST00000554437.1:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+1950C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-155C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-155C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-155C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-155C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-155C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-155C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-155C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-155C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-155C>T
  variant of: http://identifiers.org/hgnc/20726
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30435
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser27Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/14-31177044-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177044
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177044
    reference: chr 14
allele count: 1
allele frequency: 3.522863383357994e-5
allele num: 28386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-152A>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-152A>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-152A>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-152A>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-152A>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.84A>C
  hgvsp: ENSP00000450546.1:p.Arg28Ser
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-152A>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+1953A>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-152A>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-152A>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-152A>C
  variant of: http://identifiers.org/hgnc/20726
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg28Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/14-31177051-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177051
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177051
    reference: chr 14
allele count: 2
allele frequency: 6.342762907522517e-5
allele num: 31532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-145C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+1960C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-145C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.91C>A
  hgvsp: ENSP00000450546.1:p.Gln31Lys
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-145C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-145C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-145C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-145C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-145C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-145C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-145C>A
  variant of: http://identifiers.org/hgnc/20726
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10098
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln31Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

14-31177054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177054
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177054
    reference: chr 14
allele count: 1
allele frequency: 2.91970802919708e-5
allele num: 34250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-142G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-142G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.94G>A
  hgvsp: ENSP00000450546.1:p.Asp32Asn
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-142G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-142G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+1963G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-142G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-142G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-142G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-142G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-142G>A
  variant of: http://identifiers.org/hgnc/20726
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp32Asn
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/14-31177057-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177057
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177057
    reference: chr 14
allele count: 1
allele frequency: 2.695999137280276e-5
allele num: 37092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-139C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-139C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-139C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-139C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-139C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.97C>A
  hgvsp: ENSP00000450546.1:p.Pro33Thr
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-139C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-139C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-139C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+1966C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-139C>A
  variant of: http://identifiers.org/hgnc/20726
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro33Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

14-31177081-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177081
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177081
    reference: chr 14
allele count: 2
allele frequency: 2.989983555090447e-5
allele num: 66890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+1990T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-115T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-115T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-115T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-115T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-115T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-115T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-115T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-115T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*13T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-115T>G
  variant of: http://identifiers.org/hgnc/20726
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20265
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.*13T>G
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

14-31177094-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177094
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177094
    reference: chr 14
allele count: 5
allele frequency: 5.387002240992932e-5
allele num: 92816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-102G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-102G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-102G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-102G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-102G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*14+12G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2003G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-102G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-102G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-102G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-102G>A
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30510
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

14-31177109-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177109
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177109
    reference: chr 14
allele count: 2
allele frequency: 1.768033946251768e-5
allele num: 113120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2018G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*14+27G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-87G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-87G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-87G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-87G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-87G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-87G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-87G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-87G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-87G>T
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8979
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS

14-31177150-A-AGGCACTTTGTACTTAGAATGGTCCTTCTCTTTTGCCCCTACC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177150
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177192
    reference: chr 14
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: AGGCACTTTGTACTTAGAATGGTCCTTCTCTTTTGCCCCTACC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 15966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

14-31177158-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177158
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177158
    reference: chr 14
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-38T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-38T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-38T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-38T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-38T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-38T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2067T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*15-38T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-38T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-38T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-38T>C
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

14-31177159-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177159
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177159
    reference: chr 14
allele count: 2
allele frequency: 1.648994937585542e-5
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-37G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2068G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*15-37G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-37G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-37G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-37G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-37G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-37G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-37G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-37G>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-37G>T
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

14-31177168-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177168
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177168
    reference: chr 14
allele count: 2
allele frequency: 1.648967746190884e-5
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-28A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-28A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-28A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-28A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2077A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-28A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-28A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*15-28A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-28A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-28A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-28A>G
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/14-31177173-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177173
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177173
    reference: chr 14
allele count: 2
allele frequency: 1.649076517150396e-5
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-23C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-23C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-23C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-23C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-23C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*15-23C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-23C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2082C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-23C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-23C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-23C>A
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

14-31177179-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177179
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177179
    reference: chr 14
allele count: 8
allele frequency: 6.59576222277187e-5
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-17C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-17C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2088C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-17C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-17C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-17C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-17C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-17C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-17C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*15-17C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-17C>T
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

14-31177189-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177189
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177189
    reference: chr 14
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-7T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-7T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*15-7T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-7T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2098T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-7T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-7T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-7T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-7T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-7T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-7T>C
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1554-7T>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

14-31177191-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177191
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177191
    reference: chr 14
allele count: 2
allele frequency: 1.648886177387175e-5
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2100C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*15-5C>T
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15941
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1554-5C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

14-31177192-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177192
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177192
    reference: chr 14
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*15-4C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.999-4C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1353-4C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1425-4C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1024-4C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1318-4C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1554-4C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1278-4C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*974-4C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2101C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1377-4C>G
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15944
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1554-4C>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/14-31177197-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177197
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177197
    reference: chr 14
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2106C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1279C>A
  hgvsp: ENSP00000379870.2:p.Leu427Ile
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1025C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*16C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*975C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1354C>A
  hgvsp: ENSP00000443010.2:p.Leu452Ile
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1000C>A
  hgvsp: ENSP00000443537.1:p.Leu334Ile
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1426C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1555C>A
  hgvsp: ENSP00000390783.2:p.Leu519Ile
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1319C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1378C>A
  hgvsp: ENSP00000388078.3:p.Leu460Ile
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu519Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

14-31177207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177207
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177207
    reference: chr 14
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1364G>A
  hgvsp: ENSP00000443010.2:p.Arg455Gln
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1329G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1289G>A
  hgvsp: ENSP00000379870.2:p.Arg430Gln
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*985G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1010G>A
  hgvsp: ENSP00000443537.1:p.Arg337Gln
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1565G>A
  hgvsp: ENSP00000390783.2:p.Arg522Gln
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1388G>A
  hgvsp: ENSP00000388078.3:p.Arg463Gln
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1035G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2116G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1436G>A
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg522Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

14-31177215-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177215
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177215
    reference: chr 14
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2124A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1337A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1573A>G
  hgvsp: ENSP00000390783.2:p.Asn525Asp
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*993A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1444A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1372A>G
  hgvsp: ENSP00000443010.2:p.Asn458Asp
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*34A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1018A>G
  hgvsp: ENSP00000443537.1:p.Asn340Asp
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1043A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1396A>G
  hgvsp: ENSP00000388078.3:p.Asn466Asp
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1297A>G
  hgvsp: ENSP00000379870.2:p.Asn433Asp
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn525Asp
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

14-31177235-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177235
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177235
    reference: chr 14
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1038G>A
  hgvsp: ENST00000541123.1:c.1038G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1317G>A
  hgvsp: ENST00000396629.2:c.1317G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1593G>A
  hgvsp: ENST00000458591.2:c.1593G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1464G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1013G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2144G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*54G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1416G>A
  hgvsp: ENST00000421551.3:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1063G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1392G>A
  hgvsp: ENST00000544052.2:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1357G>A
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val531Val
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

14-31177235-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177235
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177235
    reference: chr 14
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*54G>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1317G>C
  hgvsp: ENST00000396629.2:c.1317G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1464G>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1063G>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1593G>C
  hgvsp: ENST00000458591.2:c.1593G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1038G>C
  hgvsp: ENST00000541123.1:c.1038G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1416G>C
  hgvsp: ENST00000421551.3:c.1416G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1392G>C
  hgvsp: ENST00000544052.2:c.1392G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1357G>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2144G>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1013G>C
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val531Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

14-31177236-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177236
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177236
    reference: chr 14
allele count: 7
allele frequency: 5.771006463527239e-5
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1318A>G
  hgvsp: ENSP00000379870.2:p.Met440Val
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1039A>G
  hgvsp: ENSP00000443537.1:p.Met347Val
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1064A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1417A>G
  hgvsp: ENSP00000388078.3:p.Met473Val
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1014A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*55A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1393A>G
  hgvsp: ENSP00000443010.2:p.Met465Val
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1594A>G
  hgvsp: ENSP00000390783.2:p.Met532Val
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1465A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2145A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1358A>G
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met532Val
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

14-31177250-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177250
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177250
    reference: chr 14
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1431G>A
  hgvsp: ENST00000421551.3:c.1431G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1028G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1479G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*69G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1608G>A
  hgvsp: ENST00000458591.2:c.1608G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1053G>A
  hgvsp: ENST00000541123.1:c.1053G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1372G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1407G>A
  hgvsp: ENST00000544052.2:c.1407G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1332G>A
  hgvsp: ENST00000396629.2:c.1332G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2159G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1078G>A
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys536Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

14-31177279-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177279
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177279
    reference: chr 14
allele count: 3
allele frequency: 2.479338842975207e-5
allele num: 121000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1074+8C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1353+8C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1428+8C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1500+8C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1629+8C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1393+8C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1049+8C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1452+8C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*90+8C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1099+8C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2188C>T
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1629+8C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

14-31177283-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177283
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177283
    reference: chr 14
allele count: 1
allele frequency: 8.268973158913126e-6
allele num: 120934
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1353+12T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2192T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1428+12T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1629+12T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1393+12T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1074+12T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1099+12T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1049+12T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*90+12T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1452+12T>C
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1500+12T>C
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

14-31177294-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177294
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177294
    reference: chr 14
allele count: 5
allele frequency: 4.144974632755248e-5
allele num: 120628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1500+23A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1353+23A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1099+23A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1393+23A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1428+23A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1074+23A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1049+23A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1629+23A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2203A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*90+23A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1452+23A>G
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14887
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

14-31177297-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177297
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177297
    reference: chr 14
allele count: 1
allele frequency: 8.296827293243064e-6
allele num: 120528
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1074+26C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1452+26C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1428+26C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*90+26C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1393+26C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2206C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1353+26C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1629+26C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1049+26C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1099+26C>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1500+26C>G
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

14-31177302-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177302
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177302
    reference: chr 14
allele count: 3
allele frequency: 2.491446035278876e-5
allele num: 120412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*90+31A>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1099+31A>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1074+31A>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1500+31A>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1452+31A>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1393+31A>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2211A>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1629+31A>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1353+31A>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1428+31A>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1049+31A>T
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13285
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20602
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

14-31177313-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31177313
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31177313
    reference: chr 14
allele count: 7
allele frequency: 5.836251459062865e-5
allele num: 119940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1393+42A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1099+42A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1112+2222A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*90+42A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1629+42A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1074+42A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1049+42A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1353+42A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1452+42A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1428+42A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1500+42A>G
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15110
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10877
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

14-31185093-TTAATATTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31185093
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31185085
    reference: chr 14
allele count: 1
allele frequency: 8.762859496310836e-6
allele num: 114118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092108
  ensembl transcript: ENST00000556486
  gene symbol: SCFD1
  hgvsc: ENST00000556486.1:n.598_605delCTAATATT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  variant of: http://identifiers.org/hgnc/20726
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: TTAATATTC
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

14-31185096-ATAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31185096
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31185093
    reference: chr 14
allele count: 1
allele frequency: 8.719460091031163e-6
allele num: 114686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1354-32_1354-30delATT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1429-32_1429-30delATT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092108
  ensembl transcript: ENST00000556486
  gene symbol: SCFD1
  hgvsc: ENST00000556486.1:n.595_597delATT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1050-32_*1050-30delATT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1075-32_1075-30delATT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1100-32_*1100-30delATT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*91-32_*91-30delATT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1113-32_*1113-30delATT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1630-32_1630-30delATT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1453-32_1453-30delATT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1501-32_*1501-30delATT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1394-32_*1394-30delATT
  variant of: http://identifiers.org/hgnc/20726
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: ATAT
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

14-31185104-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31185104
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31185104
    reference: chr 14
allele count: 1
allele frequency: 8.59490494035136e-6
allele num: 116348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1453-26A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1075-26A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1050-26A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1100-26A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1354-26A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1501-26A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*91-26A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1630-26A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092108
  ensembl transcript: ENST00000556486
  gene symbol: SCFD1
  hgvsc: ENST00000556486.1:n.601A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1394-26A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1429-26A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1113-26A>G
  variant of: http://identifiers.org/hgnc/20726
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

11-76255537-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255537
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255537
    reference: chr 11
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.2989C>G
  hgvsp: ENSP00000433205.1:p.Leu997Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2650C>G
  hgvsp: ENSP00000431166.1:p.Leu884Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.2947C>G
  hgvsp: ENSP00000436968.1:p.Leu983Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.2944C>G
  hgvsp: ENSP00000432327.1:p.Leu982Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2671C>G
  hgvsp: ENSP00000433634.1:p.Leu891Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.2944C>G
  hgvsp: ENSP00000334130.3:p.Leu982Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1064C>G
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.364C>G
  hgvsp: ENSP00000436528.1:p.Leu122Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.2947C>G
  hgvsp: ENSP00000432010.1:p.Leu983Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.2944C>G
  hgvsp: ENSP00000344688.3:p.Leu982Val
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu982Val
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD

11-76255538-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255538
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255538
    reference: chr 11
allele count: 4
allele frequency: 3.29549012176836e-5
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.2948T>C
  hgvsp: ENSP00000436968.1:p.Leu983Pro
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1065T>C
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.2948T>C
  hgvsp: ENSP00000432010.1:p.Leu983Pro
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.2990T>C
  hgvsp: ENSP00000433205.1:p.Leu997Pro
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.2945T>C
  hgvsp: ENSP00000432327.1:p.Leu982Pro
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2672T>C
  hgvsp: ENSP00000433634.1:p.Leu891Pro
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2651T>C
  hgvsp: ENSP00000431166.1:p.Leu884Pro
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.365T>C
  hgvsp: ENSP00000436528.1:p.Leu122Pro
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.2945T>C
  hgvsp: ENSP00000334130.3:p.Leu982Pro
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.2945T>C
  hgvsp: ENSP00000344688.3:p.Leu982Pro
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5069
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu982Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

11-76255556-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255556
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255556
    reference: chr 11
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.2966A>G
  hgvsp: ENSP00000432010.1:p.Gln989Arg
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.2963A>G
  hgvsp: ENSP00000344688.3:p.Gln988Arg
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2690A>G
  hgvsp: ENSP00000433634.1:p.Gln897Arg
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.2963A>G
  hgvsp: ENSP00000334130.3:p.Gln988Arg
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3008A>G
  hgvsp: ENSP00000433205.1:p.Gln1003Arg
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.2963A>G
  hgvsp: ENSP00000432327.1:p.Gln988Arg
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2669A>G
  hgvsp: ENSP00000431166.1:p.Gln890Arg
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.383A>G
  hgvsp: ENSP00000436528.1:p.Gln128Arg
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1083A>G
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.2966A>G
  hgvsp: ENSP00000436968.1:p.Gln989Arg
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln988Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

14-31185125-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31185125
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31185125
    reference: chr 14
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1630-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1453-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*91-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1113-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1394-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092108
  ensembl transcript: ENST00000556486
  gene symbol: SCFD1
  hgvsc: ENST00000556486.1:n.622C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1501-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1050-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1100-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1075-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1354-5C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1429-5C>T
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1630-5C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

14-31185131-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31185131
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31185131
    reference: chr 14
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1454A>G
  hgvsp: ENSP00000388078.3:p.Asn485Ser
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1101A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1430A>G
  hgvsp: ENSP00000443010.2:p.Asn477Ser
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1355A>G
  hgvsp: ENSP00000379870.2:p.Asn452Ser
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1051A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1631A>G
  hgvsp: ENSP00000390783.2:p.Asn544Ser
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1114A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1076A>G
  hgvsp: ENSP00000443537.1:p.Asn359Ser
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092108
  ensembl transcript: ENST00000556486
  gene symbol: SCFD1
  hgvsc: ENST00000556486.1:n.628A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1395A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1502A>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*92A>G
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn544Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/14-31185137-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31185137
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31185137
    reference: chr 14
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1460C>A
  hgvsp: ENSP00000388078.3:p.Pro487His
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*98C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1508C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092108
  ensembl transcript: ENST00000556486
  gene symbol: SCFD1
  hgvsc: ENST00000556486.1:n.634C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1057C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1637C>A
  hgvsp: ENSP00000390783.2:p.Pro546His
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1401C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1082C>A
  hgvsp: ENSP00000443537.1:p.Pro361His
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1361C>A
  hgvsp: ENSP00000379870.2:p.Pro454His
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1120C>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1436C>A
  hgvsp: ENSP00000443010.2:p.Pro479His
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1107C>A
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro546His
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS

14-31185146-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31185146
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31185146
    reference: chr 14
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1445G>A
  hgvsp: ENSP00000443010.2:p.Arg482His
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1410G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1646G>A
  hgvsp: ENSP00000390783.2:p.Arg549His
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1066G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*107G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1469G>A
  hgvsp: ENSP00000388078.3:p.Arg490His
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1517G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1370G>A
  hgvsp: ENSP00000379870.2:p.Arg457His
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1091G>A
  hgvsp: ENSP00000443537.1:p.Arg364His
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452323
  ensembl transcript: ENST00000555259
  gene symbol: SCFD1
  hgvsc: ENST00000555259.1:c.*1129G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1116G>A
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000092108
  ensembl transcript: ENST00000556486
  gene symbol: SCFD1
  hgvsc: ENST00000556486.1:n.643G>A
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg549His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

14-31185183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31185183
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31185183
    reference: chr 14
allele count: 3
allele frequency: 2.475043313257982e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1683C>T
  hgvsp: ENST00000458591.2:c.1683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1482C>T
  hgvsp: ENST00000544052.2:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092108
  ensembl transcript: ENST00000556486
  gene symbol: SCFD1
  hgvsc: ENST00000556486.1:n.680C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*144C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1103C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1407C>T
  hgvsp: ENST00000396629.2:c.1407C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1128C>T
  hgvsp: ENST00000541123.1:c.1128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1153C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1447C>T
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1506C>T
  hgvsp: ENST00000421551.3:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1554C>T
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1683C>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

14-31185199-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31185199
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31185197
    reference: chr 14
allele count: 6
allele frequency: 4.95074013565028e-5
allele num: 121194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1482+19_1482+20delAT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1103+19_*1103+20delAT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1683+19_1683+20delAT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*144+19_*144+20delAT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1554+19_*1554+20delAT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl transcript: ENST00000556486
  gene symbol: SCFD1
  hgvsc: ENST00000556486.1:n.680+19_680+20delAT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1447+19_*1447+20delAT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1128+19_1128+20delAT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1506+19_1506+20delAT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1153+19_*1153+20delAT
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1407+19_1407+20delAT
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: CAT
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

14-31185214-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31185214
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31185214
    reference: chr 14
allele count: 2
allele frequency: 1.650628063978344e-5
allele num: 121166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443010
  ensembl transcript: ENST00000544052
  gene symbol: SCFD1
  hgvsc: ENST00000544052.2:c.1482+31T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000443537
  ensembl transcript: ENST00000541123
  gene symbol: SCFD1
  hgvsc: ENST00000541123.1:c.1128+31T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000450546
  ensembl transcript: ENST00000554437
  gene symbol: SCFD1
  hgvsc: ENST00000554437.1:c.*144+31T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000379870
  ensembl transcript: ENST00000396629
  gene symbol: SCFD1
  hgvsc: ENST00000396629.2:c.1407+31T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451298
  ensembl transcript: ENST00000463622
  gene symbol: SCFD1
  hgvsc: ENST00000463622.2:c.*1447+31T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000390783
  ensembl transcript: ENST00000458591
  gene symbol: SCFD1
  hgvsc: ENST00000458591.2:c.1683+31T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000451811
  ensembl transcript: ENST00000556768
  gene symbol: SCFD1
  hgvsc: ENST00000556768.1:c.*1153+31T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000388078
  ensembl transcript: ENST00000421551
  gene symbol: SCFD1
  hgvsc: ENST00000421551.3:c.1506+31T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000309417
  ensembl transcript: ENST00000311943
  gene symbol: SCFD1
  hgvsc: ENST00000311943.7:c.*1103+31T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl transcript: ENST00000556486
  gene symbol: SCFD1
  hgvsc: ENST00000556486.1:n.680+31T>G
  variant of: http://identifiers.org/hgnc/20726
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092108
  ensembl protein: ENSP00000452178
  ensembl transcript: ENST00000484733
  gene symbol: SCFD1
  hgvsc: ENST00000484733.2:c.*1554+31T>G
  variant of: http://identifiers.org/hgnc/20726
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33875
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

11-76255559-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255559
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255559
    reference: chr 11
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1086A>G
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.2969A>G
  hgvsp: ENSP00000436968.1:p.His990Arg
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.2966A>G
  hgvsp: ENSP00000334130.3:p.His989Arg
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3011A>G
  hgvsp: ENSP00000433205.1:p.His1004Arg
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2693A>G
  hgvsp: ENSP00000433634.1:p.His898Arg
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2672A>G
  hgvsp: ENSP00000431166.1:p.His891Arg
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.2966A>G
  hgvsp: ENSP00000432327.1:p.His989Arg
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.386A>G
  hgvsp: ENSP00000436528.1:p.His129Arg
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.2966A>G
  hgvsp: ENSP00000344688.3:p.His989Arg
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.2969A>G
  hgvsp: ENSP00000432010.1:p.His990Arg
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.75e1
  variant carriers: 3
hgvs: p.His989Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

11-76255568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255568
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255568
    reference: chr 11
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.2978C>T
  hgvsp: ENSP00000432010.1:p.Pro993Leu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.395C>T
  hgvsp: ENSP00000436528.1:p.Pro132Leu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.2975C>T
  hgvsp: ENSP00000334130.3:p.Pro992Leu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2681C>T
  hgvsp: ENSP00000431166.1:p.Pro894Leu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.2978C>T
  hgvsp: ENSP00000436968.1:p.Pro993Leu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3020C>T
  hgvsp: ENSP00000433205.1:p.Pro1007Leu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.2975C>T
  hgvsp: ENSP00000344688.3:p.Pro992Leu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2702C>T
  hgvsp: ENSP00000433634.1:p.Pro901Leu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.2975C>T
  hgvsp: ENSP00000432327.1:p.Pro992Leu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1095C>T
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro992Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

11-76255569-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255569
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255569
    reference: chr 11
allele count: 3
allele frequency: 2.471495419495156e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.396G>A
  hgvsp: ENST00000532719.1:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3021G>A
  hgvsp: ENST00000524767.1:c.3021G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2703G>A
  hgvsp: ENST00000533248.1:c.2703G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.2979G>A
  hgvsp: ENST00000525919.1:c.2979G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.2976G>A
  hgvsp: ENST00000334736.3:c.2976G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.2976G>A
  hgvsp: ENST00000343878.3:c.2976G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2682G>A
  hgvsp: ENST00000524490.1:c.2682G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.2976G>A
  hgvsp: ENST00000529032.1:c.2976G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1096G>A
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.2979G>A
  hgvsp: ENST00000525038.1:c.2979G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro992Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

11-76255572-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255572
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255572
    reference: chr 11
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.2982A>G
  hgvsp: ENST00000525919.1:c.2982A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3024A>G
  hgvsp: ENST00000524767.1:c.3024A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.399A>G
  hgvsp: ENST00000532719.1:c.399A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.2979A>G
  hgvsp: ENST00000334736.3:c.2979A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1099A>G
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.2979A>G
  hgvsp: ENST00000343878.3:c.2979A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.2979A>G
  hgvsp: ENST00000529032.1:c.2979A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2685A>G
  hgvsp: ENST00000524490.1:c.2685A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2706A>G
  hgvsp: ENST00000533248.1:c.2706A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.2982A>G
  hgvsp: ENST00000525038.1:c.2982A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln993Gln
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

11-76255588-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255588
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255588
    reference: chr 11
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.415A>G
  hgvsp: ENSP00000436528.1:p.Ile139Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.2995A>G
  hgvsp: ENSP00000334130.3:p.Ile999Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2701A>G
  hgvsp: ENSP00000431166.1:p.Ile901Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.2998A>G
  hgvsp: ENSP00000436968.1:p.Ile1000Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1115A>G
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.2995A>G
  hgvsp: ENSP00000344688.3:p.Ile999Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3040A>G
  hgvsp: ENSP00000433205.1:p.Ile1014Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.2998A>G
  hgvsp: ENSP00000432010.1:p.Ile1000Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2722A>G
  hgvsp: ENSP00000433634.1:p.Ile908Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.2995A>G
  hgvsp: ENSP00000432327.1:p.Ile999Val
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile999Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/11-76255590-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255590
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255590
    reference: chr 11
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2724C>A
  hgvsp: ENST00000533248.1:c.2724C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.2997C>A
  hgvsp: ENST00000529032.1:c.2997C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3042C>A
  hgvsp: ENST00000524767.1:c.3042C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2703C>A
  hgvsp: ENST00000524490.1:c.2703C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.417C>A
  hgvsp: ENST00000532719.1:c.417C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.3000C>A
  hgvsp: ENST00000525919.1:c.3000C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.2997C>A
  hgvsp: ENST00000343878.3:c.2997C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.2997C>A
  hgvsp: ENST00000334736.3:c.2997C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.3000C>A
  hgvsp: ENST00000525038.1:c.3000C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1117C>A
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile999Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/11-76255601-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255601
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255601
    reference: chr 11
allele count: 8
allele frequency: 6.590002965501334e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.3008A>C
  hgvsp: ENSP00000344688.3:p.Lys1003Thr
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2735A>C
  hgvsp: ENSP00000433634.1:p.Lys912Thr
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.3011A>C
  hgvsp: ENSP00000432010.1:p.Lys1004Thr
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.3011A>C
  hgvsp: ENSP00000436968.1:p.Lys1004Thr
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1128A>C
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.3008A>C
  hgvsp: ENSP00000432327.1:p.Lys1003Thr
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3053A>C
  hgvsp: ENSP00000433205.1:p.Lys1018Thr
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.428A>C
  hgvsp: ENSP00000436528.1:p.Lys143Thr
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.3008A>C
  hgvsp: ENSP00000334130.3:p.Lys1003Thr
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2714A>C
  hgvsp: ENSP00000431166.1:p.Lys905Thr
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Lys1003Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

11-76255604-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255604
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255604
    reference: chr 11
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.3011T>C
  hgvsp: ENSP00000334130.3:p.Leu1004Pro
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2738T>C
  hgvsp: ENSP00000433634.1:p.Leu913Pro
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.3011T>C
  hgvsp: ENSP00000432327.1:p.Leu1004Pro
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2717T>C
  hgvsp: ENSP00000431166.1:p.Leu906Pro
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.431T>C
  hgvsp: ENSP00000436528.1:p.Leu144Pro
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.3011T>C
  hgvsp: ENSP00000344688.3:p.Leu1004Pro
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.3014T>C
  hgvsp: ENSP00000436968.1:p.Leu1005Pro
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3056T>C
  hgvsp: ENSP00000433205.1:p.Leu1019Pro
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1131T>C
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.3014T>C
  hgvsp: ENSP00000432010.1:p.Leu1005Pro
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu1004Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-76255605-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255605
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255605
    reference: chr 11
allele count: 8
allele frequency: 6.589894396942289e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.3012C>G
  hgvsp: ENST00000529032.1:c.3012C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.3015C>G
  hgvsp: ENST00000525919.1:c.3015C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.432C>G
  hgvsp: ENST00000532719.1:c.432C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2739C>G
  hgvsp: ENST00000533248.1:c.2739C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.3015C>G
  hgvsp: ENST00000525038.1:c.3015C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3057C>G
  hgvsp: ENST00000524767.1:c.3057C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2718C>G
  hgvsp: ENST00000524490.1:c.2718C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1132C>G
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.3012C>G
  hgvsp: ENST00000334736.3:c.3012C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.3012C>G
  hgvsp: ENST00000343878.3:c.3012C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu1004Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

11-76255606-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255606
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255606
    reference: chr 11
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3058A>G
  hgvsp: ENSP00000433205.1:p.Thr1020Ala
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.3013A>G
  hgvsp: ENSP00000432327.1:p.Thr1005Ala
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2719A>G
  hgvsp: ENSP00000431166.1:p.Thr907Ala
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.3013A>G
  hgvsp: ENSP00000334130.3:p.Thr1005Ala
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.3016A>G
  hgvsp: ENSP00000432010.1:p.Thr1006Ala
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.3016A>G
  hgvsp: ENSP00000436968.1:p.Thr1006Ala
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2740A>G
  hgvsp: ENSP00000433634.1:p.Thr914Ala
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1133A>G
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.3013A>G
  hgvsp: ENSP00000344688.3:p.Thr1005Ala
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.433A>G
  hgvsp: ENSP00000436528.1:p.Thr145Ala
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr1005Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

11-76255607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255607
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255607
    reference: chr 11
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.3017C>T
  hgvsp: ENSP00000436968.1:p.Thr1006Ile
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2720C>T
  hgvsp: ENSP00000431166.1:p.Thr907Ile
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.434C>T
  hgvsp: ENSP00000436528.1:p.Thr145Ile
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.3017C>T
  hgvsp: ENSP00000432010.1:p.Thr1006Ile
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1134C>T
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.3014C>T
  hgvsp: ENSP00000344688.3:p.Thr1005Ile
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2741C>T
  hgvsp: ENSP00000433634.1:p.Thr914Ile
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3059C>T
  hgvsp: ENSP00000433205.1:p.Thr1020Ile
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.3014C>T
  hgvsp: ENSP00000432327.1:p.Thr1005Ile
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.3014C>T
  hgvsp: ENSP00000334130.3:p.Thr1005Ile
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr1005Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

11-76255610-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255610
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255610
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1137C>T
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.3017C>T
  hgvsp: ENSP00000344688.3:p.Pro1006Leu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3062C>T
  hgvsp: ENSP00000433205.1:p.Pro1021Leu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.437C>T
  hgvsp: ENSP00000436528.1:p.Pro146Leu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.3017C>T
  hgvsp: ENSP00000432327.1:p.Pro1006Leu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2723C>T
  hgvsp: ENSP00000431166.1:p.Pro908Leu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.3020C>T
  hgvsp: ENSP00000436968.1:p.Pro1007Leu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.3020C>T
  hgvsp: ENSP00000432010.1:p.Pro1007Leu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.3017C>T
  hgvsp: ENSP00000334130.3:p.Pro1006Leu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2744C>T
  hgvsp: ENSP00000433634.1:p.Pro915Leu
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro1006Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

11-76255612-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255612
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255612
    reference: chr 11
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2725C>G
  hgvsp: ENSP00000431166.1:p.Leu909Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3064C>G
  hgvsp: ENSP00000433205.1:p.Leu1022Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.3019C>G
  hgvsp: ENSP00000432327.1:p.Leu1007Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1139C>G
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.439C>G
  hgvsp: ENSP00000436528.1:p.Leu147Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2746C>G
  hgvsp: ENSP00000433634.1:p.Leu916Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.3022C>G
  hgvsp: ENSP00000436968.1:p.Leu1008Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.3019C>G
  hgvsp: ENSP00000334130.3:p.Leu1007Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.3019C>G
  hgvsp: ENSP00000344688.3:p.Leu1007Val
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.3022C>G
  hgvsp: ENSP00000432010.1:p.Leu1008Val
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu1007Val
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

11-76255612-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255612
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255612
    reference: chr 11
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.3022C>T
  hgvsp: ENSP00000436968.1:p.Leu1008Phe
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.3022C>T
  hgvsp: ENSP00000432010.1:p.Leu1008Phe
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2725C>T
  hgvsp: ENSP00000431166.1:p.Leu909Phe
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.3019C>T
  hgvsp: ENSP00000344688.3:p.Leu1007Phe
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.3019C>T
  hgvsp: ENSP00000334130.3:p.Leu1007Phe
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.439C>T
  hgvsp: ENSP00000436528.1:p.Leu147Phe
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.3019C>T
  hgvsp: ENSP00000432327.1:p.Leu1007Phe
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2746C>T
  hgvsp: ENSP00000433634.1:p.Leu916Phe
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3064C>T
  hgvsp: ENSP00000433205.1:p.Leu1022Phe
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1139C>T
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu1007Phe
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-76255634-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255634
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255634
    reference: chr 11
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.3041C>A
  hgvsp: ENSP00000334130.3:p.Pro1014His
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.3044C>A
  hgvsp: ENSP00000436968.1:p.Pro1015His
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3086C>A
  hgvsp: ENSP00000433205.1:p.Pro1029His
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2768C>A
  hgvsp: ENSP00000433634.1:p.Pro923His
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.461C>A
  hgvsp: ENSP00000436528.1:p.Pro154His
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1161C>A
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.3041C>A
  hgvsp: ENSP00000432327.1:p.Pro1014His
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.3044C>A
  hgvsp: ENSP00000432010.1:p.Pro1015His
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2747C>A
  hgvsp: ENSP00000431166.1:p.Pro916His
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.3041C>A
  hgvsp: ENSP00000344688.3:p.Pro1014His
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro1014His
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

11-76255636-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255636
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255636
    reference: chr 11
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2770A>G
  hgvsp: ENSP00000433634.1:p.Lys924Glu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.3043A>G
  hgvsp: ENSP00000432327.1:p.Lys1015Glu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2749A>G
  hgvsp: ENSP00000431166.1:p.Lys917Glu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.463A>G
  hgvsp: ENSP00000436528.1:p.Lys155Glu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.3043A>G
  hgvsp: ENSP00000334130.3:p.Lys1015Glu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3088A>G
  hgvsp: ENSP00000433205.1:p.Lys1030Glu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.3043A>G
  hgvsp: ENSP00000344688.3:p.Lys1015Glu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.3046A>G
  hgvsp: ENSP00000432010.1:p.Lys1016Glu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.3046A>G
  hgvsp: ENSP00000436968.1:p.Lys1016Glu
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1163A>G
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys1015Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

11-76255642-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76255642
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 76255642
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436528
  ensembl transcript: ENST00000532719
  gene symbol: C11orf30
  hgvsc: ENST00000532719.1:c.469G>T
  hgvsp: ENSP00000436528.1:p.Asp157Tyr
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432327
  ensembl transcript: ENST00000529032
  gene symbol: C11orf30
  hgvsc: ENST00000529032.1:c.3049G>T
  hgvsp: ENSP00000432327.1:p.Asp1017Tyr
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158636
  ensembl transcript: ENST00000531641
  gene symbol: C11orf30
  hgvsc: ENST00000531641.1:n.1169G>T
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000344688
  ensembl transcript: ENST00000343878
  gene symbol: C11orf30
  hgvsc: ENST00000343878.3:c.3049G>T
  hgvsp: ENSP00000344688.3:p.Asp1017Tyr
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433205
  ensembl transcript: ENST00000524767
  gene symbol: C11orf30
  hgvsc: ENST00000524767.1:c.3094G>T
  hgvsp: ENSP00000433205.1:p.Asp1032Tyr
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000436968
  ensembl transcript: ENST00000525038
  gene symbol: C11orf30
  hgvsc: ENST00000525038.1:c.3052G>T
  hgvsp: ENSP00000436968.1:p.Asp1018Tyr
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000334130
  ensembl transcript: ENST00000334736
  gene symbol: C11orf30
  hgvsc: ENST00000334736.3:c.3049G>T
  hgvsp: ENSP00000334130.3:p.Asp1017Tyr
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000432010
  ensembl transcript: ENST00000525919
  gene symbol: C11orf30
  hgvsc: ENST00000525919.1:c.3052G>T
  hgvsp: ENSP00000432010.1:p.Asp1018Tyr
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000433634
  ensembl transcript: ENST00000533248
  gene symbol: C11orf30
  hgvsc: ENST00000533248.1:c.2776G>T
  hgvsp: ENSP00000433634.1:p.Asp926Tyr
  variant of: http://identifiers.org/hgnc/18071
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158636
  ensembl protein: ENSP00000431166
  ensembl transcript: ENST00000524490
  gene symbol: C11orf30
  hgvsc: ENST00000524490.1:c.2755G>T
  hgvsp: ENSP00000431166.1:p.Asp919Tyr
  variant of: http://identifiers.org/hgnc/18071
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5074
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp1017Tyr
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 435
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6657
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32534
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2586
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1142
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.269357705001269e-4
allele num: 7878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.26e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.181e0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 3.95e0

DP
type: SiteQuality
SIO_000300: 3.54149e5

QD
type: SiteQuality
SIO_000300: 1.553e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 1091
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 17569
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27850
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3680
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.162790697674419e-3
allele num: 1720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.56427e5

QD
type: SiteQuality
SIO_000300: 1.172e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.048999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.604e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.739e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.28e-2

GenotypeQuality
all individuals: 1288
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 715
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24650
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20686
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3993
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.256826901376664e-4
allele num: 8862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1920
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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allele frequency: 3.546099290780142e-3
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European (Non-Finnish)
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African
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East Asian
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QD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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DP
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VQSLOD
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MQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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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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European (Finnish)
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Latino
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South Asian
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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African
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South Asian
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Other
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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQ
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ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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Other
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Latino
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European (Finnish)
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East Asian
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DP
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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Other
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DP
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 2.224199288256228e-4
allele num: 8992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15192
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1050
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1400
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -2.148e0

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

DP
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SIO_000300: 6.43347e5

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3446
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1212
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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allele count: 0
allele frequency: 0.0e0
allele num: 9226
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European (Non-Finnish)
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allele count: 1
allele frequency: 5.967299200381907e-5
allele num: 16758
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.87e-2

ClippingRankSum
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SIO_000300: -1.961e0

MQ
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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SIO_000300: -2.37e0

QD
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FS
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -1.547e0

DP
type: SiteQuality
SIO_000300: 6.69439e5

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

European (Non-Finnish)
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allele count: 1
allele frequency: 5.458515283842795e-5
allele num: 18320
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1964
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1842
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 342
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 3780
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

BaseQRankSum
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SIO_000300: -1.451e0

VQSLOD
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SIO_000300: -2.263e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
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SIO_000300: -2.63e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 2.24e-1

QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.58e-2

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.9628e5

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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.660911406736485e-5
allele num: 35330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6670
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4132
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11778
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4042
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.031e1

BaseQRankSum
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SIO_000300: 3.26e0

FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 9.50692e5

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

ReadPosRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 1.4e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

MQ
type: SiteQuality
SIO_000300: 5.906e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5360
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7774
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 5.982292414453218e-5
allele num: 50148
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.7e-3

ReadPosRankSum
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DP
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VQSLOD
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ClippingRankSum
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QD
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BaseQRankSum
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SIO_000300: 2.98e0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10538
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15600
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6340
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African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.231957596716331e-5
allele num: 61882
num of homozygotes: 0

DP
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.915e1

VQSLOD
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FS
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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num of homozygotes: 0

East Asian
type: Population
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num of homozygotes: 0

Latino
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allele frequency: 8.706251088281386e-5
allele num: 11486
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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allele count: 0
allele frequency: 0.0e0
allele num: 16504
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
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Other
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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MQ
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FS
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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

FS
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 2.86e-2

VQSLOD
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DP
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SIO_000300: 2.155222e6

MQRankSum
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SIO_000300: 1.6e0

MQ
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SIO_000300: 5.959e1

ClippingRankSum
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SIO_000300: 2.19e0

QD
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SIO_000300: 1.324e1

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: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.741553465691397e-4
allele num: 11484
num of homozygotes: 0

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

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

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

QD
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -5.82e-1

ReadPosRankSum
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SIO_000300: 1.68e0

DP
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BaseQRankSum
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SIO_000300: -3.205e0

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: 9.75e1
variant carriers: 2

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

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

South Asian
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allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.54e-1

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
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ReadPosRankSum
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VQSLOD
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QD
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SIO_000300: 1.535e1

BaseQRankSum
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SIO_000300: 4.55e0

DP
type: SiteQuality
SIO_000300: 2.15518e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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: 2

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

QD
type: SiteQuality
SIO_000300: 1.144e1

FS
type: SiteQuality
SIO_000300: 4.653e0

MQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

InbreedingCoeff
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SIO_000300: 1.93e-2

BaseQRankSum
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SIO_000300: -2.122e0

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

DP
type: SiteQuality
SIO_000300: 2.155235e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-1

GenotypeQuality
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bin: 5.25e1
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: 8

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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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

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

African
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allele count: 8
allele frequency: 7.68787238131847e-4
allele num: 10406
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.801e0

MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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QD
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SIO_000300: 1.219e1

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

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

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

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

GenotypeDepth
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variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

Other
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South Asian
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Latino
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allele frequency: 8.706251088281386e-5
allele num: 11486
num of homozygotes: 0

East Asian
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African
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European (Finnish)
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QD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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FS
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

Other
type: Population
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South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

African
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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allele num: 8654
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African
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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VQSLOD
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DP
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GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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South Asian
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allele frequency: 6.056935190793458e-5
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European (Finnish)
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Other
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European (Non-Finnish)
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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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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GenotypeDepth
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variant carriers: 0

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

Other
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num of homozygotes: 0

Latino
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South Asian
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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VQSLOD
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FS
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BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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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

Other
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European (Non-Finnish)
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Latino
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East Asian
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African
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European (Finnish)
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FS
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ClippingRankSum
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DP
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele num: 6612
num of homozygotes: 0

South Asian
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East Asian
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African
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Latino
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Other
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European (Non-Finnish)
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FS
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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QD
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MQ
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MQRankSum
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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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South Asian
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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Latino
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East Asian
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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DP
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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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QD
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GenotypeDepth
all individuals: 23934
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1002
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 545
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2970
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8201
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variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4131
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2870
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

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

African
type: Population
allele count: 3
allele frequency: 2.884615384615385e-4
allele num: 10400
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.063e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 2.145124e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.887e0

QD
type: SiteQuality
SIO_000300: 1.403e1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2962
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2866
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 139
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29341
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.14011e6

QD
type: SiteQuality
SIO_000300: 1.359e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 442
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variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9173
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2930
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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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: 7.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27548
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variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66310
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.388274530454625e-4
allele num: 11394
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 2.291e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

QD
type: SiteQuality
SIO_000300: 1.602e1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

DP
type: SiteQuality
SIO_000300: 2.105094e6

GenotypeQuality
all individuals: 1774
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
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variant carriers: 0

GenotypeQuality
all individuals: 10
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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: 657
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 1246
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 26652
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2906
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
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variant carriers: 0

GenotypeQuality
all individuals: 4007
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variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

DP
type: SiteQuality
SIO_000300: 2.089184e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.907e0

VQSLOD
type: SiteQuality
SIO_000300: -5.714e-1

QD
type: SiteQuality
SIO_000300: 1.878e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

GenotypeQuality
all individuals: 1767
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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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
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1625
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variant carriers: 0

GenotypeQuality
all individuals: 2707
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.827708054100158e-4
allele num: 16414
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

QD
type: SiteQuality
SIO_000300: 1.558e1

DP
type: SiteQuality
SIO_000300: 2.047505e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.416e0

GenotypeQuality
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bin: 2.75e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 7

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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GenotypeQuality
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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: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.29287226534933e-4
allele num: 11336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518003521768171e-5
allele num: 65876
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.339e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

DP
type: SiteQuality
SIO_000300: 1.958713e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.050640890943476e-4
allele num: 9518
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
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
allele num: 15520
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.55e0

BaseQRankSum
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SIO_000300: 1.21e0

ClippingRankSum
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SIO_000300: -4.91e-1

MQ
type: SiteQuality
SIO_000300: 5.089e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.505051e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 5.97e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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South Asian
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FS
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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MQRankSum
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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East Asian
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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FS
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MQ
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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DP
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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FS
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MQ
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DP
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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East Asian
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Latino
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South Asian
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European (Finnish)
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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QD
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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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East Asian
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South Asian
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.132e0

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

ReadPosRankSum
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SIO_000300: 2.31e0

DP
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SIO_000300: 1.687244e6

BaseQRankSum
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SIO_000300: 1.8e0

QD
type: SiteQuality
SIO_000300: 1.012e1

VQSLOD
type: SiteQuality
SIO_000300: -1.208e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

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: 4.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-2

MQ
type: SiteQuality
SIO_000300: 5.885e1

MQRankSum
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SIO_000300: -8.999999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.45e-1

ReadPosRankSum
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SIO_000300: -9.8e-2

FS
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SIO_000300: 4.534e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.07e-1

QD
type: SiteQuality
SIO_000300: 1.071e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-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

GenotypeDepth
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
all individuals: 2628
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.593360995850622e-4
allele num: 11568
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 4.536e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ReadPosRankSum
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SIO_000300: 7.14e-1

DP
type: SiteQuality
SIO_000300: 1.689344e6

QD
type: SiteQuality
SIO_000300: 1.164e1

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

GenotypeQuality
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bin: 2.75e1
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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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
all individuals: 1037
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GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 5
allele frequency: 3.029935765361775e-4
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 6.041e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.279e0

DP
type: SiteQuality
SIO_000300: 1.686908e6

QD
type: SiteQuality
SIO_000300: 1.651e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6312
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.936108422071636e-4
allele num: 10330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

MQ
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SIO_000300: 6.0e1

MQRankSum
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DP
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FS
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SIO_000300: 6.287e0

BaseQRankSum
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SIO_000300: 1.19e0

ClippingRankSum
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SIO_000300: 1.31e0

VQSLOD
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SIO_000300: 1.1e0

QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

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
all individuals: 38
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

Other
type: Population
allele count: 1
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allele num: 908
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MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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FS
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQ
type: SiteQuality
SIO_000300: 5.94e1

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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variant carriers: 0

South Asian
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allele count: 0
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allele num: 16512
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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FS
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ClippingRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

East Asian
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allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
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ClippingRankSum
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SIO_000300: 1.45e-1

InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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MQ
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QD
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BaseQRankSum
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SIO_000300: -2.38e-1

DP
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SIO_000300: 1.505169e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8652
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South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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FS
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SIO_000300: 0.0e0

VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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QD
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MQ
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ReadPosRankSum
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SIO_000300: -7.39e-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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16512
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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East Asian
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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FS
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VQSLOD
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QD
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ReadPosRankSum
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MQ
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MQRankSum
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SIO_000300: -8.22e-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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variant carriers: 0

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

East Asian
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allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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

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

Latino
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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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Other
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allele count: 0
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num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
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DP
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VQSLOD
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MQ
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SIO_000300: 5.958e1

FS
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QD
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SIO_000300: 1.401e1

ReadPosRankSum
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ClippingRankSum
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MQRankSum
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SIO_000300: 1.11e0

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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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 8
allele frequency: 1.198897014746433e-4
allele num: 66728
num of homozygotes: 0

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

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

South Asian
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VQSLOD
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FS
type: SiteQuality
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DP
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66726
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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Other
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ClippingRankSum
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MQ
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FS
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Other
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
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European (Finnish)
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 8.991458114790949e-5
allele num: 66730
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VQSLOD
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BaseQRankSum
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FS
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DP
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QD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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MQRankSum
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SIO_000300: 2.89e-1

DP
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SIO_000300: 1.50681e6

MQ
type: SiteQuality
SIO_000300: 5.884e1

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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bin: 5.25e1
variant carriers: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

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: 0
allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: 2.45e-1

DP
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SIO_000300: 1.506843e6

FS
type: SiteQuality
SIO_000300: 6.76e-1

MQRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -3.999e0

MQ
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SIO_000300: 5.982e1

VQSLOD
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InbreedingCoeff
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SIO_000300: -2.0e-4

QD
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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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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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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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allele num: 66732
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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FS
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QD
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VQSLOD
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DP
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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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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

Other
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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 frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
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allele num: 10402
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 7.06e-1

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

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

South Asian
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num of homozygotes: 0

African
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Other
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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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FS
type: SiteQuality
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DP
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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African
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East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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MQRankSum
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MQ
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DP
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FS
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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