6-9897179-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9897179
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9897179
    reference: chr 6
allele count: 4
allele frequency: 3.534880432669365e-5
allele num: 113158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+3380C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.769C>T
  hgvsp: ENSP00000325053.6:p.Leu257Phe
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+11572C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.595C>T
  hgvsp: ENSP00000419759.1:p.Leu199Phe
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+11572C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.799C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.674C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+11572C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.294C>T
  hgvsp: ENSP00000420421.1:p.Leu99Phe
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+3380C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+11572C>T
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu99Phe
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

6-9897193-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9897193
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9897193
    reference: chr 6
allele count: 85
allele frequency: 8.109603678897857e-4
allele num: 104814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.581G>A
  hgvsp: ENSP00000419759.1:p.Ser194Asn
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.755G>A
  hgvsp: ENSP00000325053.6:p.Ser252Asn
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+11558G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.785G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.280G>A
  hgvsp: ENSP00000420421.1:p.Ser94Asn
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+11558G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.660G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+11558G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+3366G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+3366G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+11558G>A
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20092
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15315
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Ser94Asn
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

6-9897195-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9897195
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9897195
    reference: chr 6
allele count: 1
allele frequency: 9.625009625009625e-6
allele num: 103896
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.658G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.753G>C
  hgvsp: ENSP00000325053.6:p.Met251Ile
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+3364G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+11556G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.278G>C
  hgvsp: ENSP00000420421.1:p.Met93Ile
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.579G>C
  hgvsp: ENSP00000419759.1:p.Met193Ile
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.783G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+11556G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+11556G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+3364G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+11556G>C
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met93Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

6-9897215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9897215
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9897215
    reference: chr 6
allele count: 1
allele frequency: 1.18503069229493e-5
allele num: 84386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+3344C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+11536C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.638C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.559C>T
  hgvsp: ENSP00000419759.1:p.His187Tyr
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.258C>T
  hgvsp: ENSP00000420421.1:p.His87Tyr
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.763C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+3344C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+11536C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+11536C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.733C>T
  hgvsp: ENSP00000325053.6:p.His245Tyr
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+11536C>T
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His87Tyr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

6-9897228-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9897228
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9897228
    reference: chr 6
allele count: 1
allele frequency: 1.376462491397109e-5
allele num: 72650
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+11523A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+11523A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+11523A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.245A>G
  hgvsp: ENST00000469656.1:c.245A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.625A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.720A>G
  hgvsp: ENST00000316020.6:c.720A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+11523A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+3331A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.750A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.546A>G
  hgvsp: ENST00000469426.1:c.546A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+3331A>G
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18371
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg82Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

6-9897238-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9897238
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9897238
    reference: chr 6
allele count: 1
allele frequency: 1.588865232450984e-5
allele num: 62938
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+11513A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.712-2A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.237-2A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+3321A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.617-2A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+11513A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.538-2A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.742-2A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+3321A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+11513A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+11513A>G
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.237-2A>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/6-9897243-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9897243
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9897243
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 56774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.538-7T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.617-7T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+11508T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.237-7T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.742-7T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+11508T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.712-7T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+11508T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+11508T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+3316T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+3316T>G
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21170
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.237-7T>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

6-9897247-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9897247
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9897247
    reference: chr 6
allele count: 1
allele frequency: 1.863377184809749e-5
allele num: 53666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+3312G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.237-11G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+11504G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+11504G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.712-11G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.617-11G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+11504G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.538-11G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+11504G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+3312G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.742-11G>C
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

6-9897252-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9897252
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9897252
    reference: chr 6
allele count: 1
allele frequency: 2.187322280064745e-5
allele num: 45718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+11499C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+3307C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.712-16C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+3307C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+11499C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.237-16C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+11499C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+11499C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.538-16C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.742-16C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.617-16C>T
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12917
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19499
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/6-9897266-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9897266
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9897265
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 34666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+11484delT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+3292delT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.538-31delT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+11484delT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+11484delT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.617-31delT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.712-31delT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.742-31delT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+3292delT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+11484delT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.237-31delT
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17744
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: CA
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

6-9897270-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9897270
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9897270
    reference: chr 6
allele count: 3
allele frequency: 9.448818897637796e-5
allele num: 31750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+11481C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+3289C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.538-34C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.742-34C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+11481C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.617-34C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+11481C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.237-34C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+3289C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.712-34C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+11481C>T
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17527
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

6-9897273-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9897273
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9897273
    reference: chr 6
allele count: 1
allele frequency: 3.323805092069401e-5
allele num: 30086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+3286C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.742-37C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.538-37C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+11478C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+11478C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+3286C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+11478C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+11478C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.617-37C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.237-37C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.712-37C>G
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 2.75e1
  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: G
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

6-9897273-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9897273
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9897273
    reference: chr 6
allele count: 1
allele frequency: 3.323805092069401e-5
allele num: 30086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.237-37C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+11478C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.742-37C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+11478C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+11478C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.712-37C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+3286C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.617-37C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.538-37C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+11478C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+3286C>A
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

6-9897288-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9897288
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9897288
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 24240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.712-52A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+11463A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+11463A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.742-52A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+3271A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.237-52A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.538-52A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+11463A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+3271A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+11463A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.617-52A>C
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18659
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

6-9900515-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900515
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900513
    reference: chr 6
allele count: 333
allele frequency: 2.799919281606296e-3
allele num: 118932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.537+42_537+43delCT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+42_535+43delCT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.616+42_616+43delCT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.711+42_711+43delCT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8234_304+8235delCT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+42_*190+43delCT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.236+42_236+43delCT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8234_290+8235delCT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8234_343+8235delCT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8234_392+8235delCT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.741+42_741+43delCT
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10689
  bin: 3.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8401
  bin: 3.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 4.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9935
  bin: 2.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8330
  bin: 2.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 7
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: AAG
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP

6-9900519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900519
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900519
    reference: chr 6
allele count: 1
allele frequency: 8.403361344537815e-6
allele num: 119000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.537+40C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.711+40C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+40C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8232C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.741+40C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8232C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.616+40C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8232C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.236+40C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8232C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+40C>T
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

6-9900521-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900521
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900521
    reference: chr 6
allele count: 1
allele frequency: 8.40039649871474e-6
allele num: 119042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.537+38C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.236+38C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8230C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8230C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.711+38C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+38C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.741+38C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.616+38C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8230C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8230C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+38C>A
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

6-9900531-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900531
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900531
    reference: chr 6
allele count: 1
allele frequency: 8.373105584861425e-6
allele num: 119430
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.537+28G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.741+28G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8220G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.616+28G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8220G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8220G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8220G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+28G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.711+28G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.236+28G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+28G>C
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

6-9900534-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900534
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900534
    reference: chr 6
allele count: 1
allele frequency: 8.353102342209896e-6
allele num: 119716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+25A>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8217A>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+25A>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8217A>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.616+25A>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.236+25A>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.741+25A>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.711+25A>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.537+25A>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8217A>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8217A>T
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

6-9900543-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900543
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900543
    reference: chr 6
allele count: 1
allele frequency: 8.307579835842223e-6
allele num: 120372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8208A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.537+16A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.741+16A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.236+16A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+16A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.616+16A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8208A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8208A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+16A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8208A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.711+16A>G
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10809
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

6-9900547-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900547
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900547
    reference: chr 6
allele count: 1
allele frequency: 8.292974192264313e-6
allele num: 120584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8204G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+12G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.711+12G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8204G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+12G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.537+12G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.236+12G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8204G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.741+12G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.616+12G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8204G>C
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

6-9900549-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900549
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900549
    reference: chr 6
allele count: 17
allele frequency: 1.408240693185772e-4
allele num: 120718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.711+10A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8202A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8202A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.236+10A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.616+10A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8202A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8202A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+10A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.537+10A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+10A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.741+10A>G
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12328
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

6-9900556-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900556
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900556
    reference: chr 6
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.741+3C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.711+3C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8195C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.236+3C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8195C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.537+3C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.535+3C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*190+3C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8195C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8195C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.616+3C>G
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.711+3C>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

6-9900564-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900564
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900564
    reference: chr 6
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.231G>C
  hgvsp: ENSP00000420421.1:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.706G>C
  hgvsp: ENSP00000325053.6:p.Glu236Gln
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8187G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.611G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.736G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*185G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8187G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8187G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.532G>C
  hgvsp: ENSP00000419759.1:p.Glu178Gln
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8187G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.530G>C
  hgvsp: ENSP00000473634.1:p.Glu178Gln
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu178Gln
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

6-9900564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900564
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900564
    reference: chr 6
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.231G>A
  hgvsp: ENSP00000420421.1:p.Glu78Lys
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.530G>A
  hgvsp: ENSP00000473634.1:p.Glu178Lys
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.611G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8187G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8187G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.532G>A
  hgvsp: ENSP00000419759.1:p.Glu178Lys
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*185G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8187G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.736G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.706G>A
  hgvsp: ENSP00000325053.6:p.Glu236Lys
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8187G>A
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu178Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

6-9900568-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900568
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900568
    reference: chr 6
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.607A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8183A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.702A>G
  hgvsp: ENST00000316020.6:c.702A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8183A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8183A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*181A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.528A>G
  hgvsp: ENST00000469426.1:c.528A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.526A>G
  hgvsp: ENST00000492094.2:c.526A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.227A>G
  hgvsp: ENST00000469656.1:c.227A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.732A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8183A>G
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro176Pro
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

6-9900579-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900579
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900579
    reference: chr 6
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.691G>C
  hgvsp: ENSP00000325053.6:p.Gly231Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.517G>C
  hgvsp: ENSP00000419759.1:p.Gly173Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8172G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.216G>C
  hgvsp: ENSP00000420421.1:p.Gly73Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.596G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.515G>C
  hgvsp: ENSP00000473634.1:p.Gly173Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8172G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.721G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*170G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8172G>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8172G>C
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly173Arg
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

6-9900585-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900585
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900586
    reference: chr 6
allele count: 432
allele frequency: 3.566769596591753e-3
allele num: 121118
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*163dupT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8165dupT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.508dupT
  hgvsp: ENSP00000473634.1:p.Leu171SerfsTer31
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8165dupT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8165dupT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.510dupT
  hgvsp: ENSP00000419759.1:p.Leu171SerfsTer12
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.209dupT
  hgvsp: ENSP00000420421.1:p.Leu71SerfsTer12
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.684dupT
  hgvsp: ENSP00000325053.6:p.Leu229SerfsTer12
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8165dupT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.714dupT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.589dupT
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 9.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 4.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 10923
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11241
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11585
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8475
  bin: 3.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 5.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
hgvs: p.Leu171SerfsTer12
num of homozygotes: 10
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

6-9900587-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900587
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900587
    reference: chr 6
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.509T>A
  hgvsp: ENSP00000419759.1:p.Ile170Asn
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.713T>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8164T>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8164T>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.683T>A
  hgvsp: ENSP00000325053.6:p.Ile228Asn
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.208T>A
  hgvsp: ENSP00000420421.1:p.Ile70Asn
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*162T>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8164T>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8164T>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.507T>A
  hgvsp: ENSP00000473634.1:p.Ile170Asn
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.588T>A
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile170Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-9900591-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900591
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900591
    reference: chr 6
allele count: 8
allele frequency: 6.676458806249166e-5
allele num: 119824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*158A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.503A>G
  hgvsp: ENSP00000473634.1:p.Ile169Val
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.584A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.679A>G
  hgvsp: ENSP00000325053.6:p.Ile227Val
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8160A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8160A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8160A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.204A>G
  hgvsp: ENSP00000420421.1:p.Ile69Val
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8160A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.709A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.505A>G
  hgvsp: ENSP00000419759.1:p.Ile169Val
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile169Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-9900599-T-TGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900599
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900602
    reference: chr 6
allele count: 23266
allele frequency: 1.918307443685894e-1
allele num: 121284
alternate allele: TGAG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.193_195dupCTC
  hgvsp: ENSP00000420421.1:p.Ser65_Gln66insPro
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.494_496dupCTC
  hgvsp: ENSP00000419759.1:p.Ser165_Gln166insPro
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.492_494dupCTC
  hgvsp: ENSP00000473634.1:p.Ser165_Gln166insPro
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.698_700dupCTC
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8149_304+8151dupCTC
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8149_392+8151dupCTC
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.573_575dupCTC
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8149_343+8151dupCTC
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.668_670dupCTC
  hgvsp: ENSP00000325053.6:p.Ser223_Gln224insPro
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*147_*149dupCTC
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8149_290+8151dupCTC
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 7.75e1
  variant carriers: 1686
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 5.75e1
  variant carriers: 1181
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 6.25e1
  variant carriers: 1349
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 6.75e1
  variant carriers: 1642
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 5.25e1
  variant carriers: 924
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7556
  bin: 2.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 7670
  bin: 3.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 4.25e1
  variant carriers: 397
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.25e1
  variant carriers: 1782
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 8.25e1
  variant carriers: 1651
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 2.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 4.75e1
  variant carriers: 638
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 3.75e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 9.25e1
  variant carriers: 1281
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 8.75e1
  variant carriers: 1539
genotype quality: GenotypeQuality
hgvs: p.Ser165_Gln166insPro
num of homozygotes: 2584
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

6-9900607-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900607
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900607
    reference: chr 6
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.489A>G
  hgvsp: ENST00000469426.1:c.489A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8144A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.568A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8144A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*142A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.188A>G
  hgvsp: ENST00000469656.1:c.188A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.663A>G
  hgvsp: ENST00000316020.6:c.663A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.487A>G
  hgvsp: ENST00000492094.2:c.487A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.693A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8144A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8144A>G
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8665
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln163Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

6-9900610-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900610
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900610
    reference: chr 6
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.690C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8141C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8141C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.486C>A
  hgvsp: ENSP00000419759.1:p.Phe162Leu
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.484C>A
  hgvsp: ENSP00000473634.1:p.Phe162Leu
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.565C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.185C>A
  hgvsp: ENSP00000420421.1:p.Phe62Leu
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8141C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*139C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8141C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.660C>A
  hgvsp: ENSP00000325053.6:p.Phe220Leu
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe162Leu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

6-9900613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900613
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900613
    reference: chr 6
allele count: 118
allele frequency: 9.724580112409554e-4
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8138G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.657G>A
  hgvsp: ENST00000316020.6:c.657G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8138G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.562G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.483G>A
  hgvsp: ENST00000469426.1:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.182G>A
  hgvsp: ENST00000469656.1:c.182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8138G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*136G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8138G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.481G>A
  hgvsp: ENST00000492094.2:c.481G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.687G>A
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 9.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: p.Glu161Glu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

6-9900623-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900623
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900623
    reference: chr 6
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8128A>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8128A>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8128A>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.471A>T
  hgvsp: ENSP00000473634.1:p.His158Leu
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8128A>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.552A>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.677A>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.473A>T
  hgvsp: ENSP00000419759.1:p.His158Leu
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.647A>T
  hgvsp: ENSP00000325053.6:p.His216Leu
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.172A>T
  hgvsp: ENSP00000420421.1:p.His58Leu
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*126A>T
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His158Leu
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: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-9900639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900639
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900639
    reference: chr 6
allele count: 4
allele frequency: 3.296467834715103e-5
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.536G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.631G>A
  hgvsp: ENSP00000325053.6:p.Glu211Lys
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8112G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8112G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.455G>A
  hgvsp: ENSP00000473634.1:p.Glu153Lys
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.661G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8112G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.156G>A
  hgvsp: ENSP00000420421.1:p.Glu53Lys
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*110G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.457G>A
  hgvsp: ENSP00000419759.1:p.Glu153Lys
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8112G>A
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu153Lys
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

6-9900640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900640
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900640
    reference: chr 6
allele count: 11
allele frequency: 9.065435965056865e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*109C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.155C>T
  hgvsp: ENST00000469656.1:c.155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.535C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.660C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8111C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.456C>T
  hgvsp: ENST00000469426.1:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.454C>T
  hgvsp: ENST00000492094.2:c.454C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.630C>T
  hgvsp: ENST00000316020.6:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8111C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8111C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8111C>T
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9142
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser152Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/6-9900645-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900645
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900645
    reference: chr 6
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8106G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.451G>T
  hgvsp: ENSP00000419759.1:p.Ala151Ser
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.655G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8106G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.530G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.625G>T
  hgvsp: ENSP00000325053.6:p.Ala209Ser
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.449G>T
  hgvsp: ENSP00000473634.1:p.Ala151Ser
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*104G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.150G>T
  hgvsp: ENSP00000420421.1:p.Ala51Ser
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8106G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8106G>T
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala151Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

6-9900651-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900651
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900651
    reference: chr 6
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.619A>G
  hgvsp: ENSP00000325053.6:p.Lys207Glu
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8100A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.445A>G
  hgvsp: ENSP00000419759.1:p.Lys149Glu
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*98A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8100A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.144A>G
  hgvsp: ENSP00000420421.1:p.Lys49Glu
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.619A>G
  hgvsp: ENSP00000418251.1:p.Lys207Glu
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8100A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.649A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.524A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.443A>G
  hgvsp: ENSP00000473634.1:p.Lys149Glu
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8100A>G
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys149Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

6-9900655-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900655
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900655
    reference: chr 6
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*94C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.520C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.439C>A
  hgvsp: ENST00000492094.2:c.439C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.441C>A
  hgvsp: ENST00000469426.1:c.441C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.645C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.615C>A
  hgvsp: ENST00000491508.1:c.615C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.615C>A
  hgvsp: ENST00000316020.6:c.615C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.140C>A
  hgvsp: ENST00000469656.1:c.140C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8096C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8096C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8096C>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8096C>A
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile147Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

6-9900659-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900659
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900659
    reference: chr 6
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.611A>G
  hgvsp: ENSP00000418251.1:p.Glu204Gly
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8092A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8092A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.611A>G
  hgvsp: ENSP00000325053.6:p.Glu204Gly
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8092A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.516A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.136A>G
  hgvsp: ENSP00000420421.1:p.Glu46Gly
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.641A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*90A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.437A>G
  hgvsp: ENSP00000419759.1:p.Glu146Gly
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8092A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.435A>G
  hgvsp: ENSP00000473634.1:p.Glu146Gly
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu146Gly
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/6-9900660-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900660
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900660
    reference: chr 6
allele count: 80
allele frequency: 6.593153010598493e-4
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.610G>T
  hgvsp: ENSP00000325053.6:p.Glu204Ter
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.434G>T
  hgvsp: ENSP00000473634.1:p.Glu146Ter
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.135G>T
  hgvsp: ENSP00000420421.1:p.Glu46Ter
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.515G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.610G>T
  hgvsp: ENSP00000418251.1:p.Glu204Ter
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.436G>T
  hgvsp: ENSP00000419759.1:p.Glu146Ter
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8091G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8091G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8091G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8091G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*89G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.640G>T
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 9.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6643
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Glu146Ter
num of homozygotes: 1
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

6-9900660-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900660
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900660
    reference: chr 6
allele count: 5
allele frequency: 4.120720631624058e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.610G>A
  hgvsp: ENSP00000325053.6:p.Glu204Lys
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8091G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.610G>A
  hgvsp: ENSP00000418251.1:p.Glu204Lys
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.436G>A
  hgvsp: ENSP00000419759.1:p.Glu146Lys
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.434G>A
  hgvsp: ENSP00000473634.1:p.Glu146Lys
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.640G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.135G>A
  hgvsp: ENSP00000420421.1:p.Glu46Lys
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*89G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8091G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.515G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8091G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8091G>A
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu146Lys
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

6-9900661-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900661
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900661
    reference: chr 6
allele count: 20
allele frequency: 1.648070932972955e-4
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.609C>T
  hgvsp: ENST00000491508.1:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8090C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8090C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.609C>T
  hgvsp: ENST00000316020.6:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*88C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.639C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.435C>T
  hgvsp: ENST00000469426.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.433C>T
  hgvsp: ENST00000492094.2:c.433C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.134C>T
  hgvsp: ENST00000469656.1:c.134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8090C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8090C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.514C>T
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His145His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/6-9900664-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900664
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900664
    reference: chr 6
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8087T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.511T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.606T>G
  hgvsp: ENSP00000418251.1:p.Ser202Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8087T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.432T>G
  hgvsp: ENSP00000419759.1:p.Ser144Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.131T>G
  hgvsp: ENSP00000420421.1:p.Ser44Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.606T>G
  hgvsp: ENSP00000325053.6:p.Ser202Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.430T>G
  hgvsp: ENSP00000473634.1:p.Ser144Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8087T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*85T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.636T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8087T>G
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8639
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser144Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

6-9900666-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900666
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900666
    reference: chr 6
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.634A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.604A>G
  hgvsp: ENSP00000418251.1:p.Ser202Gly
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.129A>G
  hgvsp: ENSP00000420421.1:p.Ser44Gly
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.509A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.604A>G
  hgvsp: ENSP00000325053.6:p.Ser202Gly
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.430A>G
  hgvsp: ENSP00000419759.1:p.Ser144Gly
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8085A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8085A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8085A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8085A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*83A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.428A>G
  hgvsp: ENSP00000473634.1:p.Ser144Gly
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser144Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

6-9900671-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900671
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900671
    reference: chr 6
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.124A>G
  hgvsp: ENSP00000420421.1:p.Asn42Ser
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8080A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.629A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8080A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.423A>G
  hgvsp: ENSP00000473634.1:p.Asn142Ser
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.504A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.599A>G
  hgvsp: ENSP00000325053.6:p.Asn200Ser
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.425A>G
  hgvsp: ENSP00000419759.1:p.Asn142Ser
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8080A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*78A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8080A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.599A>G
  hgvsp: ENSP00000418251.1:p.Asn200Ser
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn142Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

6-9900679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900679
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900679
    reference: chr 6
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8072G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.496G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8072G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.621G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*70G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.417G>A
  hgvsp: ENST00000469426.1:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.116G>A
  hgvsp: ENST00000469656.1:c.116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8072G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.591G>A
  hgvsp: ENST00000491508.1:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8072G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.415G>A
  hgvsp: ENST00000492094.2:c.415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.591G>A
  hgvsp: ENST00000316020.6:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly139Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/6-9900681-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900681
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900681
    reference: chr 6
allele count: 57
allele frequency: 4.697156983930779e-4
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8070G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.114G>T
  hgvsp: ENSP00000420421.1:p.Gly39Trp
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.415G>T
  hgvsp: ENSP00000419759.1:p.Gly139Trp
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.413G>T
  hgvsp: ENSP00000473634.1:p.Gly139Trp
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.589G>T
  hgvsp: ENSP00000418251.1:p.Gly197Trp
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8070G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.589G>T
  hgvsp: ENSP00000325053.6:p.Gly197Trp
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8070G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.619G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8070G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*68G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.494G>T
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly139Trp
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

6-9900682-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900682
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900682
    reference: chr 6
allele count: 57
allele frequency: 4.697156983930779e-4
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.588T>C
  hgvsp: ENST00000491508.1:c.588T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8069T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.588T>C
  hgvsp: ENST00000316020.6:c.588T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*67T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.113T>C
  hgvsp: ENST00000469656.1:c.113T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8069T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.412T>C
  hgvsp: ENST00000492094.2:c.412T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8069T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.414T>C
  hgvsp: ENST00000469426.1:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.618T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.493T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8069T>C
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Pro138Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS

6-9900683-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900683
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900683
    reference: chr 6
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.617C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8068C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8068C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*66C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.492C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.112C>G
  hgvsp: ENSP00000420421.1:p.Pro38Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.411C>G
  hgvsp: ENSP00000473634.1:p.Pro138Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.413C>G
  hgvsp: ENSP00000419759.1:p.Pro138Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8068C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8068C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.587C>G
  hgvsp: ENSP00000418251.1:p.Pro196Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.587C>G
  hgvsp: ENSP00000325053.6:p.Pro196Arg
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro138Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

6-9900688-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900688
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900688
    reference: chr 6
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8063A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.582A>G
  hgvsp: ENST00000316020.6:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.582A>G
  hgvsp: ENST00000491508.1:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8063A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.406A>G
  hgvsp: ENST00000492094.2:c.406A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.408A>G
  hgvsp: ENST00000469426.1:c.408A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8063A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.107A>G
  hgvsp: ENST00000469656.1:c.107A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.487A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.612A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*61A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8063A>G
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu136Glu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

6-9900692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900692
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900692
    reference: chr 6
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8059C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8059C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*57C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.404C>T
  hgvsp: ENSP00000419759.1:p.Ser135Phe
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.483C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.578C>T
  hgvsp: ENSP00000325053.6:p.Ser193Phe
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8059C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.578C>T
  hgvsp: ENSP00000418251.1:p.Ser193Phe
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.402C>T
  hgvsp: ENSP00000473634.1:p.Ser135Phe
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.103C>T
  hgvsp: ENSP00000420421.1:p.Ser35Phe
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8059C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.608C>T
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser135Phe
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

6-9900697-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900697
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900695
    reference: chr 6
allele count: 22
allele frequency: 1.813356192611398e-4
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8052_343+8053delCT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.395_396delCT
  hgvsp: ENSP00000473634.1:p.Leu133GlufsTer3
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8052_392+8053delCT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.571_572delCT
  hgvsp: ENSP00000418251.1:p.Leu191GlufsTer3
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8052_290+8053delCT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.476_477delCT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8052_304+8053delCT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.571_572delCT
  hgvsp: ENSP00000325053.6:p.Leu191GlufsTer3
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.96_97delCT
  hgvsp: ENSP00000420421.1:p.Leu33GlufsTer3
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.397_398delCT
  hgvsp: ENSP00000419759.1:p.Leu133GlufsTer3
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.601_602delCT
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*50_*51delCT
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu133GlufsTer3
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: CAG
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS

http://identifiers.org/exac.variant/6-9900698-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900698
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900698
    reference: chr 6
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8053T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.396T>G
  hgvsp: ENSP00000473634.1:p.Leu133Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8053T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.572T>G
  hgvsp: ENSP00000418251.1:p.Leu191Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.477T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.572T>G
  hgvsp: ENSP00000325053.6:p.Leu191Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.97T>G
  hgvsp: ENSP00000420421.1:p.Leu33Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.398T>G
  hgvsp: ENSP00000419759.1:p.Leu133Arg
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*51T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8053T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8053T>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.602T>G
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu133Arg
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

6-9900699-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900699
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900699
    reference: chr 6
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.397C>T
  hgvsp: ENST00000469426.1:c.397C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8052C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8052C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*50C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.571C>T
  hgvsp: ENST00000491508.1:c.571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.571C>T
  hgvsp: ENST00000316020.6:c.571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8052C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.96C>T
  hgvsp: ENST00000469656.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8052C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.476C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.601C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.395C>T
  hgvsp: ENST00000492094.2:c.395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu133Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

6-9900701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900701
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900701
    reference: chr 6
allele count: 1272
allele frequency: 1.048622446455953e-2
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.395C>T
  hgvsp: ENSP00000419759.1:p.Thr132Ile
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.393C>T
  hgvsp: ENSP00000473634.1:p.Thr132Ile
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8050C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.569C>T
  hgvsp: ENSP00000418251.1:p.Thr190Ile
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.474C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8050C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.599C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.94C>T
  hgvsp: ENSP00000420421.1:p.Thr32Ile
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*48C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8050C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8050C>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.569C>T
  hgvsp: ENSP00000325053.6:p.Thr190Ile
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 6.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 9.75e1
  variant carriers: 815
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
hgvs: p.Thr132Ile
num of homozygotes: 55
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-9900710-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900710
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900710
    reference: chr 6
allele count: 3
allele frequency: 2.474634991338777e-5
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.590G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.85G>A
  hgvsp: ENSP00000420421.1:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.384G>A
  hgvsp: ENSP00000473634.1:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.386G>A
  hgvsp: ENSP00000419759.1:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8041G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.465G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8041G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8041G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*39G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.560G>A
  hgvsp: ENSP00000418251.1:p.Arg187Gln
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.560G>A
  hgvsp: ENSP00000325053.6:p.Arg187Gln
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8041G>A
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg129Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

6-9900711-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900711
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900711
    reference: chr 6
allele count: 106
allele frequency: 8.749339672477549e-4
allele num: 121152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.383C>G
  hgvsp: ENSP00000473634.1:p.Arg129Gly
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.559C>G
  hgvsp: ENSP00000418251.1:p.Arg187Gly
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*38C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8040C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.464C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8040C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.559C>G
  hgvsp: ENSP00000325053.6:p.Arg187Gly
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.84C>G
  hgvsp: ENSP00000420421.1:p.Arg29Gly
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.589C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.385C>G
  hgvsp: ENSP00000419759.1:p.Arg129Gly
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8040C>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8040C>G
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8170
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Arg129Gly
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

6-9900724-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900724
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900724
    reference: chr 6
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.374-2A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8027A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.73-2A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8027A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*27-2A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.548-2A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.578-2A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.372-2A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.453-2A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.548-2A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8027A>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8027A>C
  variant of: http://identifiers.org/hgnc/21017
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.548-2A>C
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/6-9900731-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900731
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900731
    reference: chr 6
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.548-9G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8020G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8020G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.578-9G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.374-9G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.548-9G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8020G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.73-9G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.372-9G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.453-9G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8020G>T
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*27-9G>T
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

6-9900746-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900746
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900746
    reference: chr 6
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*27-24A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+8005A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.453-24A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+8005A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+8005A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.372-24A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.548-24A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.374-24A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+8005A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.73-24A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.548-24A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.578-24A>G
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

6-9900756-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900756
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900756
    reference: chr 6
allele count: 1
allele frequency: 8.315455104857889e-6
allele num: 120258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.453-34G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+7995G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.548-34G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.578-34G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*27-34G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.548-34G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+7995G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+7995G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.73-34G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.372-34G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.374-34G>A
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+7995G>A
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

6-9900758-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900758
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900758
    reference: chr 6
allele count: 1
allele frequency: 8.314625426124552e-6
allele num: 120270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+7993A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.578-36A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.73-36A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.548-36A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.453-36A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+7993A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.548-36A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.374-36A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+7993A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*27-36A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.372-36A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+7993A>G
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

6-9900760-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900760
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900760
    reference: chr 6
allele count: 1
allele frequency: 8.327088017320342e-6
allele num: 120090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.372-38A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.374-38A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+7991A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+7991A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.548-38A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.453-38A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+7991A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+7991A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.548-38A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.73-38A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*27-38A>G
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.578-38A>G
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

6-9900774-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9900774
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9900774
    reference: chr 6
allele count: 36
allele frequency: 3.014418970743389e-4
allele num: 119426
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.548-52T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*27-52T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.453-52T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.374-52T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+7977T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.73-52T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+7977T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.548-52T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+7977T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.372-52T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.578-52T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+7977T>C
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7067
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6005
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

6-9903557-ATT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9903557
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9903555
    reference: chr 6
allele count: 1
allele frequency: 8.628872206402623e-6
allele num: 115890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.373+47_373+48delAA
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.452+47_452+48delAA
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000417429
  ensembl transcript: ENST00000487015
  gene symbol: OFCC1
  hgvsc: ENST00000487015.1:c.304+5192_304+5193delAA
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.577+47_577+48delAA
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.372-2837_372-2836delAA
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000325053
  ensembl transcript: ENST00000316020
  gene symbol: OFCC1
  hgvsc: ENST00000316020.6:c.548-2837_548-2836delAA
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.548-2837_548-2836delAA
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000460066
  gene symbol: OFCC1
  hgvsc: ENST00000460066.1:n.392+5192_392+5193delAA
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*26+47_*26+48delAA
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+5192_343+5193delAA
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000420421
  ensembl transcript: ENST00000469656
  gene symbol: OFCC1
  hgvsc: ENST00000469656.1:c.72+47_72+48delAA
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418013
  ensembl transcript: ENST00000492169
  gene symbol: OFCC1
  hgvsc: ENST00000492169.1:c.290+5192_290+5193delAA
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8530
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: ATT
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

6-9903561-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9903561
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 9903561
    reference: chr 6
allele count: 1
allele frequency: 8.627085597943303e-6
allele num: 115914
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419718
  ensembl transcript: ENST00000460363
  gene symbol: OFCC1
  hgvsc: ENST00000460363.2:c.343+5190T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000472329
  gene symbol: OFCC1
  hgvsc: ENST00000472329.1:n.577+45T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418453
  ensembl transcript: ENST00000486246
  gene symbol: OFCC1
  hgvsc: ENST00000486246.1:c.*26+45T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000418251
  ensembl transcript: ENST00000491508
  gene symbol: OFCC1
  hgvsc: ENST00000491508.1:c.548-2839T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000473634
  ensembl transcript: ENST00000492094
  gene symbol: OFCC1
  hgvsc: ENST00000492094.2:c.372-2839T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl transcript: ENST00000466385
  gene symbol: OFCC1
  hgvsc: ENST00000466385.1:n.452+45T>C
  variant of: http://identifiers.org/hgnc/21017
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181355
  ensembl protein: ENSP00000419759
  ensembl transcript: ENST00000469426
  gene symbol: OFCC1
  hgvsc: ENST00000469426.1:c.373+45T>C
  variant of: http://identifiers.org/hgnc/21017
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 152
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6893
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4747
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 240
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40648
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.464541987200206e-5
allele num: 61876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.38e0

DP
type: SiteQuality
SIO_000300: 1.548633e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.852e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.41e0

QD
type: SiteQuality
SIO_000300: 2.418e1

GenotypeDepth
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14233
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2494
bin: 9.75e1
variant carriers: 83

GenotypeQuality
all individuals: 3699
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32866
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 657
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 7.5e0
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.02291325695581e-4
allele num: 9776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7380
num of homozygotes: 0

South Asian
type: Population
allele count: 84
allele frequency: 5.827667545441931e-3
allele num: 14414
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.181e0

FS
type: SiteQuality
SIO_000300: 3.819e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

DP
type: SiteQuality
SIO_000300: 1.40256e6

VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

QD
type: SiteQuality
SIO_000300: 1.067e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

GenotypeDepth
all individuals: 269
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33010
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3551
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14937
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2411
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.769911504424779e-5
allele num: 56500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.793e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-1

QD
type: SiteQuality
SIO_000300: 1.898e1

FS
type: SiteQuality
SIO_000300: 1.5934e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

DP
type: SiteQuality
SIO_000300: 1.388549e6

GenotypeDepth
all individuals: 16380
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1784
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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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: 700
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: 12638
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.2096517588828e-5
allele num: 45256
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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VQSLOD
type: SiteQuality
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DP
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -2.426e0

ClippingRankSum
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SIO_000300: -1.517e0

MQRankSum
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SIO_000300: -5.83e-1

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 1.19e0

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

Latino
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allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 11622
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4296
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.382361072712192e-4
allele num: 7234
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 38484
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: 3.02e0

ReadPosRankSum
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SIO_000300: -6.6e-1

MQ
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DP
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MQRankSum
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SIO_000300: -6.6e-1

QD
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InbreedingCoeff
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SIO_000300: -9.5e-3

FS
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VQSLOD
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ClippingRankSum
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SIO_000300: 6.6e-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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bin: 7.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3772
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10708
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.020600495378481e-5
allele num: 33106
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 3684
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.52839e5

QD
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FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.61e-2

MQRankSum
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SIO_000300: -4.61e-1

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3440
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: 496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3922
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 29556
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

VQSLOD
type: SiteQuality
SIO_000300: -1.141e0

ClippingRankSum
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SIO_000300: 9.88e-1

InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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SIO_000300: 6.0e1

MQRankSum
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 8.03377e5

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: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 27866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.019991840065279e-4
allele num: 9804
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 3510
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.63e-1

BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2662
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 23346
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 4.45632798573975e-4
allele num: 2244
num of homozygotes: 0

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

FS
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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DP
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MQ
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 4302
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 17240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
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Latino
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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 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

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

South Asian
type: Population
allele count: 3
allele frequency: 3.851091142490372e-4
allele num: 7790
num of homozygotes: 0

Other
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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QD
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DP
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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MQ
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QD
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Other
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African
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European (Finnish)
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South Asian
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DP
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InbreedingCoeff
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MQ
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VQSLOD
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QD
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ReadPosRankSum
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ClippingRankSum
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FS
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MQRankSum
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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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Latino
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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European (Finnish)
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African
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South Asian
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FS
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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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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GenotypeQuality
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South Asian
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African
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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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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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East Asian
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Latino
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South Asian
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FS
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ClippingRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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Other
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InbreedingCoeff
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MQ
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QD
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ReadPosRankSum
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DP
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BaseQRankSum
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66084
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Latino
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African
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South Asian
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European (Finnish)
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East Asian
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Other
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.288e1

MQRankSum
type: SiteQuality
SIO_000300: 9.61e-1

DP
type: SiteQuality
SIO_000300: 2.189614e6

GenotypeQuality
all individuals: 255
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511258878645912e-5
allele num: 66170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15624
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.194525e6

VQSLOD
type: SiteQuality
SIO_000300: -1.215e0

FS
type: SiteQuality
SIO_000300: 1.2594e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.306e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.546e0

GenotypeQuality
all individuals: 125
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 22266
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
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: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507113576079093e-5
allele num: 66352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16036
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.857e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

VQSLOD
type: SiteQuality
SIO_000300: -1.382e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.87e-1

FS
type: SiteQuality
SIO_000300: 1.009e0

DP
type: SiteQuality
SIO_000300: 2.207755e6

QD
type: SiteQuality
SIO_000300: 1.127e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.78e-1

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4072
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.187353050365054e-5
allele num: 16162
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.791e0

DP
type: SiteQuality
SIO_000300: 2.212729e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

QD
type: SiteQuality
SIO_000300: 1.407e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

VQSLOD
type: SiteQuality
SIO_000300: -4.423e-1

FS
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 4521
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2592
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 1.640609920864698e-3
allele num: 10362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.214971e6

QD
type: SiteQuality
SIO_000300: 1.429e1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

BaseQRankSum
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SIO_000300: 4.92e0

VQSLOD
type: SiteQuality
SIO_000300: -2.162e-1

MQ
type: SiteQuality
SIO_000300: 5.774e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
all individuals: 8476
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variant carriers: 0

GenotypeDepth
all individuals: 848
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
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MQ
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SIO_000300: 5.702e1

FS
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

DP
type: SiteQuality
SIO_000300: 2.220009e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
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: 66578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
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allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.549e0

QD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 8.800000000000001e-3

MQ
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SIO_000300: 5.856e1

ClippingRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

FS
type: SiteQuality
SIO_000300: 2.258e1

DP
type: SiteQuality
SIO_000300: 2.223606e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2600
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

South Asian
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allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

Other
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allele count: 0
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allele num: 904
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

VQSLOD
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QD
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MQ
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FS
type: SiteQuality
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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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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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
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GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.699e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.35e-2

MQRankSum
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SIO_000300: -1.708e0

QD
type: SiteQuality
SIO_000300: 1.023e1

DP
type: SiteQuality
SIO_000300: 2.225009e6

MQ
type: SiteQuality
SIO_000300: 5.892e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

GenotypeDepth
all individuals: 3615
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22283
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4510
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4080
bin: 9.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2604
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.034e1

VQSLOD
type: SiteQuality
SIO_000300: -3.437e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

FS
type: SiteQuality
SIO_000300: 6.558e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 2.234268e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.622e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

GenotypeDepth
all individuals: 796
bin: 6.75e1
variant carriers: 29

GenotypeQuality
all individuals: 22597
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variant carriers: 405

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 2

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

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 849
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2719
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.200840588411888e-4
allele num: 66620
num of homozygotes: 0

Latino
type: Population
allele count: 33
allele frequency: 2.855165253504066e-3
allele num: 11558
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.824151769427216e-4
allele num: 16446
num of homozygotes: 0

African
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allele count: 387
allele frequency: 3.736964078794901e-2
allele num: 10356
num of homozygotes: 10

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.38e-2

FS
type: SiteQuality
SIO_000300: 6.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

MQ
type: SiteQuality
SIO_000300: 5.609e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.757e0

QD
type: SiteQuality
SIO_000300: 6.52e0

DP
type: SiteQuality
SIO_000300: 2.274287e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.487e0

GenotypeDepth
all individuals: 347
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variant carriers: 0

GenotypeQuality
all individuals: 4999
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 991
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variant carriers: 0

GenotypeQuality
all individuals: 150
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variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
all individuals: 339
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variant carriers: 0

GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 4516
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 2612
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variant carriers: 0

GenotypeQuality
all individuals: 97
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GenotypeQuality
all individuals: 22365
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variant carriers: 1

GenotypeQuality
all individuals: 4082
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variant carriers: 0

GenotypeQuality
all individuals: 2718
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.314e0

MQ
type: SiteQuality
SIO_000300: 5.63e1

QD
type: SiteQuality
SIO_000300: 1.436e1

VQSLOD
type: SiteQuality
SIO_000300: -1.423e0

FS
type: SiteQuality
SIO_000300: 1.572e0

DP
type: SiteQuality
SIO_000300: 2.299612e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

GenotypeDepth
all individuals: 2202
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2684
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variant carriers: 0

GenotypeQuality
all individuals: 2604
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variant carriers: 0

GenotypeQuality
all individuals: 121
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GenotypeQuality
all individuals: 4459
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
all individuals: 267
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variant carriers: 0

GenotypeQuality
all individuals: 308
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variant carriers: 0

GenotypeQuality
all individuals: 637
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GenotypeQuality
all individuals: 286
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4079
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
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GenotypeQuality
all individuals: 22364
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 12298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.903187721369539e-4
allele num: 8470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.53898992344237e-5
allele num: 66094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16172
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.543e1

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.937e1

BaseQRankSum
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SIO_000300: 3.39e0

DP
type: SiteQuality
SIO_000300: 2.350216e6

FS
type: SiteQuality
SIO_000300: 5.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

GenotypeDepth
all individuals: 6851
bin: 9.75e1
variant carriers: 6086

GenotypeQuality
all individuals: 3054
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 14
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variant carriers: 7

GenotypeQuality
all individuals: 38
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variant carriers: 3

GenotypeQuality
all individuals: 15
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variant carriers: 5

GenotypeQuality
all individuals: 11
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3088
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variant carriers: 9

GenotypeQuality
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bin: 7.75e1
variant carriers: 15

GenotypeQuality
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variant carriers: 18

GenotypeQuality
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variant carriers: 6

GenotypeQuality
all individuals: 14
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variant carriers: 6

GenotypeQuality
all individuals: 16
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variant carriers: 11

GenotypeQuality
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bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 8
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variant carriers: 2

GenotypeQuality
all individuals: 9
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variant carriers: 5

GenotypeQuality
all individuals: 36417
bin: 9.75e1
variant carriers: 20560

GenotypeQuality
all individuals: 1796
bin: 8.75e1
variant carriers: 12

GenotypeQuality
all individuals: 8628
bin: 6.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1713
bin: 7.25e1
variant carriers: 19

European (Non-Finnish)
type: Population
allele count: 11818
allele frequency: 1.772451856740056e-1
allele num: 66676
num of homozygotes: 1073

Other
type: Population
allele count: 178
allele frequency: 1.960352422907489e-1
allele num: 908
num of homozygotes: 13

European (Finnish)
type: Population
allele count: 941
allele frequency: 1.423169993950393e-1
allele num: 6612
num of homozygotes: 73

Latino
type: Population
allele count: 1097
allele frequency: 9.489619377162629e-2
allele num: 11560
num of homozygotes: 51

East Asian
type: Population
allele count: 2707
allele frequency: 3.1389146567718e-1
allele num: 8624
num of homozygotes: 449

African
type: Population
allele count: 3614
allele frequency: 3.476337052712582e-1
allele num: 10396
num of homozygotes: 637

South Asian
type: Population
allele count: 2911
allele frequency: 1.763387448509813e-1
allele num: 16508
num of homozygotes: 288

BaseQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.44e-1

FS
type: SiteQuality
SIO_000300: 1.137e0

MQRankSum
type: SiteQuality
SIO_000300: -1.529e0

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

DP
type: SiteQuality
SIO_000300: 3.316752e6

MQ
type: SiteQuality
SIO_000300: 5.604e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.89e-2

QD
type: SiteQuality
SIO_000300: 2.087e1

GenotypeDepth
all individuals: 943
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 46
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10800
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GenotypeQuality
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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: 19
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GenotypeQuality
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GenotypeQuality
all individuals: 30940
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3582
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3916
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

FS
type: SiteQuality
SIO_000300: 6.429e0

InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

ReadPosRankSum
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BaseQRankSum
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SIO_000300: 3.43e0

ClippingRankSum
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SIO_000300: -5.610000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.12e-1

QD
type: SiteQuality
SIO_000300: 1.061e1

DP
type: SiteQuality
SIO_000300: 2.725759e6

GenotypeDepth
all individuals: 4021
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3597
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 10819
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30917
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
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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

African
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num of homozygotes: 0

Other
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South Asian
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -2.0e-4

DP
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SIO_000300: 2.725342e6

BaseQRankSum
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SIO_000300: -4.953e0

QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 4

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

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 2.873563218390805e-3
allele num: 6612
num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 97
allele frequency: 1.45405486433818e-3
allele num: 66710
num of homozygotes: 0

East Asian
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MQRankSum
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SIO_000300: 5.649999999999999e-1

FS
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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DP
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MQ
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SIO_000300: 5.963e1

GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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South Asian
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MQRankSum
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MQ
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VQSLOD
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DP
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BaseQRankSum
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 3

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 5.996282304970918e-5
allele num: 66708
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South Asian
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East Asian
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Latino
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DP
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SIO_000300: 2.727254e6

ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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ClippingRankSum
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FS
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MQ
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MQRankSum
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VQSLOD
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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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bin: 9.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

East Asian
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South Asian
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allele num: 16510
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Other
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African
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Latino
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allele frequency: 6.914433880726015e-4
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European (Non-Finnish)
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allele num: 66700
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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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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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

Latino
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European (Finnish)
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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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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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MQ
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DP
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

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

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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MQ
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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DP
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SIO_000300: 2.727188e6

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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variant carriers: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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: 66714
num of homozygotes: 0

Other
type: Population
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: 11572
num of homozygotes: 0

VQSLOD
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SIO_000300: -1.738e0

BaseQRankSum
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SIO_000300: 2.63e0

MQRankSum
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SIO_000300: -2.54e0

MQ
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SIO_000300: 5.37e1

FS
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DP
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InbreedingCoeff
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SIO_000300: 1.4e-3

ClippingRankSum
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SIO_000300: 5.99e-1

QD
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SIO_000300: 1.184e1

ReadPosRankSum
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SIO_000300: -2.05e-1

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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variant carriers: 79

GenotypeQuality
all individuals: 3581
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variant carriers: 0

African
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allele count: 72
allele frequency: 6.920415224913495e-3
allele num: 10404
num of homozygotes: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Latino
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allele count: 8
allele frequency: 6.914433880726015e-4
allele num: 11570
num of homozygotes: 0

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

ReadPosRankSum
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SIO_000300: 4.95e-1

VQSLOD
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MQRankSum
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SIO_000300: 4.93e-1

InbreedingCoeff
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BaseQRankSum
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DP
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SIO_000300: 2.733025e6

FS
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

QD
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SIO_000300: 1.322e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.996282304970918e-5
allele num: 66708
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

MQRankSum
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SIO_000300: 4.93e-1

QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
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SIO_000300: 5.977e1

VQSLOD
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BaseQRankSum
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SIO_000300: -1.96e-1

DP
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SIO_000300: 2.733025e6

ClippingRankSum
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SIO_000300: -2.09e-1

GenotypeDepth
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variant carriers: 3

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: 7.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

QD
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.965e1

VQSLOD
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GenotypeDepth
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variant carriers: 0

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

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

Latino
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South Asian
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allele num: 16510
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East Asian
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African
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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FS
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ReadPosRankSum
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MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 2.313743637204998e-4
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African
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
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African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498890820792613e-5
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num of homozygotes: 0

South Asian
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

Other
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European (Non-Finnish)
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East Asian
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South Asian
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African
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Latino
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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ClippingRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 908
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Latino
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European (Finnish)
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South Asian
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African
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East Asian
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European (Non-Finnish)
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allele frequency: 3.148048210109732e-4
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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MQ
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QD
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DP
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GenotypeDepth
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variant carriers: 5

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

Latino
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num of homozygotes: 0

African
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East Asian
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Other
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European (Non-Finnish)
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allele num: 66708
num of homozygotes: 0

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

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2081
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

Latino
type: Population
allele count: 8
allele frequency: 6.91323885240235e-4
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.388246182322999e-3
allele num: 8644
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.99e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
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SIO_000300: 2.729771e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.091e0

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

QD
type: SiteQuality
SIO_000300: 1.727e1

FS
type: SiteQuality
SIO_000300: 5.28e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
all individuals: 3485
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

FS
type: SiteQuality
SIO_000300: 6.151e0

QD
type: SiteQuality
SIO_000300: 1.12e1

DP
type: SiteQuality
SIO_000300: 2.726793e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.74e-1

BaseQRankSum
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SIO_000300: -2.583e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

QD
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SIO_000300: 1.348e1

BaseQRankSum
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SIO_000300: -5.933e0

DP
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SIO_000300: 2.729238e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
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bin: 4.75e1
variant carriers: 26

GenotypeDepth
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variant carriers: 33

GenotypeDepth
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variant carriers: 43

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1216

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 12
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 7
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.399520095980804e-4
allele num: 66680
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818181818181818e-4
allele num: 16500
num of homozygotes: 0

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

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

African
type: Population
allele count: 1172
allele frequency: 1.127790608160123e-1
allele num: 10392
num of homozygotes: 55

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 80
allele frequency: 6.91323885240235e-3
allele num: 11572
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.513e0

QD
type: SiteQuality
SIO_000300: 1.368e1

DP
type: SiteQuality
SIO_000300: 2.761775e6

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

MQ
type: SiteQuality
SIO_000300: 5.821e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.630000000000001e-2

FS
type: SiteQuality
SIO_000300: 5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 919
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variant carriers: 0

GenotypeDepth
all individuals: 416
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GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 2078
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GenotypeQuality
all individuals: 28
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000210014701029e-5
allele num: 66662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.687709e6

InbreedingCoeff
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SIO_000300: 2.0e-4

QD
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BaseQRankSum
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MQ
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SIO_000300: 5.962e1

VQSLOD
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FS
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SIO_000300: 1.805e0

ClippingRankSum
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SIO_000300: -5.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

MQRankSum
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SIO_000300: 1.63e0

GenotypeDepth
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variant carriers: 45

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: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.102040816326531e-4
allele num: 66640
num of homozygotes: 0

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

South Asian
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allele count: 68
allele frequency: 4.144319843978547e-3
allele num: 16408
num of homozygotes: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 4
allele frequency: 4.415011037527594e-3
allele num: 906
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FS
type: SiteQuality
SIO_000300: 4.244e0

MQRankSum
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SIO_000300: 2.9e-2

InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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QD
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DP
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SIO_000300: 2.692695e6

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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Latino
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Finnish)
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Other
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East Asian
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allele num: 8636
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South Asian
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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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 count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

MQRankSum
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SIO_000300: -7.000000000000001e-2

BaseQRankSum
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ReadPosRankSum
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FS
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DP
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InbreedingCoeff
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QD
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SIO_000300: 9.699999999999999e0

VQSLOD
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SIO_000300: -1.426e-1

ClippingRankSum
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SIO_000300: -1.099e0

MQ
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SIO_000300: 5.941e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16080
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504936190705514e-5
allele num: 66448
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10340
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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Other
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allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: 1.45e0

BaseQRankSum
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SIO_000300: -4.846e0

ClippingRankSum
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SIO_000300: -9.8e-2

MQ
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SIO_000300: 5.965e1

InbreedingCoeff
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SIO_000300: 9.900000000000001e-3

MQRankSum
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VQSLOD
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SIO_000300: -3.859e-1

FS
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SIO_000300: 8.974e0

QD
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SIO_000300: 1.181e1

DP
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SIO_000300: 2.654052e6

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: 1.506886471173262e-5
allele num: 66362
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15904
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11552
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

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

ClippingRankSum
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SIO_000300: -3.9e-2

FS
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.895e1

MQRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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SIO_000300: -1.959e0

InbreedingCoeff
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SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 1.214e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506477854775535e-5
allele num: 66380
num of homozygotes: 0

Latino
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allele count: 0
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -3.408e0

ClippingRankSum
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SIO_000300: -6.12e-1

MQRankSum
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InbreedingCoeff
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SIO_000300: 4.4e-3

ReadPosRankSum
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VQSLOD
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DP
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SIO_000300: 2.634853e6

MQ
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SIO_000300: 6.0e1

QD
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SIO_000300: 1.626e1

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

Latino
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allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15784
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

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

Other
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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
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FS
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MQ
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ClippingRankSum
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DP
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 36

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66174
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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East Asian
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African
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allele frequency: 3.498542274052478e-3
allele num: 10290
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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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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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

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