7-73661135-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73661135
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73661135
    reference: chr 7
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*337+2207T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*178-42T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.333-42T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.256-42T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*135-42T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.226-42T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*280-42T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*134+2207T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.332+2207T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+2934T>C
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18775
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

7-73661141-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73661141
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73661141
    reference: chr 7
allele count: 1
allele frequency: 8.290911502810618e-6
allele num: 120614
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*134+2201A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.333-48A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*178-48A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*337+2201A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*280-48A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+2928A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.226-48A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*135-48A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.256-48A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.332+2201A>G
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18774
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

7-73663294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663294
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663294
    reference: chr 7
allele count: 4
allele frequency: 3.317629885210006e-5
allele num: 120568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.255+48G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*134+48G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*177+48G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.332+48G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*134+48G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*279+48G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+775G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+775G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.332+48G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*337+48G>A
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9136
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/7-73663297-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663297
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663297
    reference: chr 7
allele count: 1
allele frequency: 8.290361625574107e-6
allele num: 120622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+772T>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*337+45T>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.332+45T>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.332+45T>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*134+45T>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*134+45T>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*177+45T>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+772T>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.255+45T>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*279+45T>G
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

7-73663298-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663298
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663298
    reference: chr 7
allele count: 1
allele frequency: 8.290911502810618e-6
allele num: 120614
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+771T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.332+44T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*279+44T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*177+44T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+771T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*337+44T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.332+44T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*134+44T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.255+44T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*134+44T>C
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13851
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

7-73663299-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663299
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663299
    reference: chr 7
allele count: 1
allele frequency: 8.290086714307032e-6
allele num: 120626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*177+43A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.332+43A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*279+43A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+770A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*134+43A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.332+43A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*337+43A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*134+43A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+770A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.255+43A>T
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

7-73663302-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663302
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663302
    reference: chr 7
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*134+40T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+767T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.255+40T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*337+40T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+767T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.332+40T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.332+40T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*279+40T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*134+40T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*177+40T>C
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13884
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

7-73663303-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663303
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663303
    reference: chr 7
allele count: 1
allele frequency: 8.289811821271656e-6
allele num: 120630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*134+39C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*337+39C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+766C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*177+39C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.255+39C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*134+39C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.332+39C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*279+39C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.332+39C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+766C>T
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

7-73663311-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663311
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663311
    reference: chr 7
allele count: 1
allele frequency: 8.285004142502071e-6
allele num: 120700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*279+31C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*177+31C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*134+31C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+758C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*134+31C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+758C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*337+31C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.332+31C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.255+31C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.332+31C>T
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

7-73663311-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663311
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663312
    reference: chr 7
allele count: 5
allele frequency: 4.142502071251036e-5
allele num: 120700
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.255+30dupG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.332+30dupG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+757dupG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*279+30dupG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*177+30dupG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*134+30dupG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*337+30dupG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*134+30dupG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+757dupG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.332+30dupG
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

7-73663311-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663311
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663310
    reference: chr 7
allele count: 1
allele frequency: 8.285004142502071e-6
allele num: 120700
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.332+30delG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*337+30delG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.332+30delG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.255+30delG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*134+30delG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+757delG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*177+30delG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+757delG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*134+30delG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*279+30delG
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: GC
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-73663311-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663311
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663311
    reference: chr 7
allele count: 1
allele frequency: 8.285004142502071e-6
allele num: 120700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*337+31C>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*134+31C>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*279+31C>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*134+31C>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+758C>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*177+31C>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.332+31C>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.255+31C>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.332+31C>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+758C>A
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

7-73663313-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663313
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663313
    reference: chr 7
allele count: 3
allele frequency: 2.484883624616914e-5
allele num: 120730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*337+29G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.255+29G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*134+29G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*134+29G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+756G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+756G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.332+29G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.332+29G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*177+29G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*279+29G>A
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

7-73663316-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663316
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663316
    reference: chr 7
allele count: 5
allele frequency: 4.139209907612835e-5
allele num: 120796
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.332+26G>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+753G>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.332+26G>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*134+26G>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.255+26G>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*134+26G>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*177+26G>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+753G>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*279+26G>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*337+26G>C
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

7-73663318-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663318
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663318
    reference: chr 7
allele count: 1
allele frequency: 8.278008642241022e-6
allele num: 120802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*177+24A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+751A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.332+24A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.332+24A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+751A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*337+24A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*134+24A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*134+24A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*279+24A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.255+24A>G
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-73663320-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663320
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663320
    reference: chr 7
allele count: 2
allele frequency: 1.655409879486161e-5
allele num: 120816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*134+22G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*177+22G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*279+22G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*134+22G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+749G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.332+22G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.255+22G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+749G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.332+22G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*337+22G>T
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

7-73663333-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663333
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663333
    reference: chr 7
allele count: 1
allele frequency: 8.266239026567692e-6
allele num: 120974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*337+9T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.332+9T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*134+9T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+736T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*177+9T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.332+9T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*134+9T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+736T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.255+9T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*279+9T>C
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

7-73663347-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663347
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663347
    reference: chr 7
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*172T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*129T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*332T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+722T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.327T>C
  hgvsp: ENST00000055077.3:c.327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.250T>C
  hgvsp: ENSP00000436840.1:p.Met84Thr
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.327T>C
  hgvsp: ENST00000352131.3:c.327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*129T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*274T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+722T>C
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met84Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-73663357-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663357
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663357
    reference: chr 7
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*322A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*119A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.240A>G
  hgvsp: ENSP00000436840.1:p.Met81Val
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*264A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*162A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.317A>G
  hgvsp: ENSP00000275627.3:p.Asn106Ser
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*119A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.317A>G
  hgvsp: ENSP00000055077.3:p.Asn106Ser
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+712A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+712A>G
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn106Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-73663362-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663362
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663362
    reference: chr 7
allele count: 3709
allele frequency: 3.062100622492281e-2
allele num: 121126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.235A>G
  hgvsp: ENSP00000436840.1:p.Asn79Ser
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.312A>G
  hgvsp: ENST00000352131.3:c.312A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.312A>G
  hgvsp: ENST00000055077.3:c.312A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+707A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*259A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*114A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*317A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*114A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+707A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*157A>G
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 10372
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29501
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 3.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 13709
  bin: 3.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 9.75e1
  variant carriers: 2937
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Asn79Ser
num of homozygotes: 85
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-73663375-T-TCTTTGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663375
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663382
    reference: chr 7
allele count: 2
allele frequency: 1.65144584083365e-5
allele num: 121106
alternate allele: TCTTTGAG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*94_*100dupCTCAAAG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.292_298dupCTCAAAG
  hgvsp: ENSP00000275627.3:p.Asp100AlafsTer13
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.215_221dupCTCAAAG
  hgvsp: ENSP00000436840.1:p.Met75LeufsTer?
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.292_298dupCTCAAAG
  hgvsp: ENSP00000055077.3:p.Asp100AlafsTer13
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*297_*303dupCTCAAAG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*137_*143dupCTCAAAG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*239_*245dupCTCAAAG
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*94_*100dupCTCAAAG
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp100AlafsTer13
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/7-73663385-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663385
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663385
    reference: chr 7
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.289G>T
  hgvsp: ENSP00000055077.3:p.Ala97Ser
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*91G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.212G>T
  hgvsp: ENSP00000436840.1:p.Gln71His
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.289G>T
  hgvsp: ENSP00000275627.3:p.Ala97Ser
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*91G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*294G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*134G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*236G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+684G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+684G>T
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala97Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

7-73663386-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663386
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663386
    reference: chr 7
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*293A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*133A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*90A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.288A>T
  hgvsp: ENST00000055077.3:c.288A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.288A>T
  hgvsp: ENST00000352131.3:c.288A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*235A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.211A>T
  hgvsp: ENSP00000436840.1:p.Gln71Leu
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+683A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+683A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*90A>T
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln71Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

7-73663389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663389
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663389
    reference: chr 7
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.285C>T
  hgvsp: ENST00000352131.3:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*290C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*130C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*87C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.208C>T
  hgvsp: ENSP00000436840.1:p.Ala70Val
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+680C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+680C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*232C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.285C>T
  hgvsp: ENST00000055077.3:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*87C>T
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala70Val
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

7-73663391-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663391
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663391
    reference: chr 7
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+678G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*288G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*85G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+678G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*230G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.283G>A
  hgvsp: ENSP00000055077.3:p.Gly95Ser
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*128G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*85G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.283G>A
  hgvsp: ENSP00000275627.3:p.Gly95Ser
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.206G>A
  hgvsp: ENSP00000436840.1:p.Trp69Ter
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Trp69Ter
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

7-73663401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663401
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663401
    reference: chr 7
allele count: 3
allele frequency: 2.479052010511181e-5
allele num: 121014
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.273G>A
  hgvsp: ENST00000055077.3:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*75G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*278G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+668G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*118G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.273G>A
  hgvsp: ENST00000352131.3:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*220G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*75G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.196G>A
  hgvsp: ENSP00000436840.1:p.Gly66Glu
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+668G>A
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14609
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly66Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

7-73663402-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663402
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663402
    reference: chr 7
allele count: 2
allele frequency: 1.652837922713299e-5
allele num: 121004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*117G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*74G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*219G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*74G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+667G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.272G>A
  hgvsp: ENSP00000275627.3:p.Arg91Gln
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+667G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.272G>A
  hgvsp: ENSP00000055077.3:p.Arg91Gln
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.195G>A
  hgvsp: ENSP00000436840.1:p.Gly66Arg
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*277G>A
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg91Gln
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ

7-73663403-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663403
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663403
    reference: chr 7
allele count: 6
allele frequency: 4.956629491945477e-5
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+666C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*73C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*218C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.271C>T
  hgvsp: ENSP00000055077.3:p.Arg91Trp
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*73C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.194C>T
  hgvsp: ENST00000473493.1:c.194C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.271C>T
  hgvsp: ENSP00000275627.3:p.Arg91Trp
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*276C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*116C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+666C>T
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10709
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46113
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg91Trp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

7-73663403-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663403
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663403
    reference: chr 7
allele count: 2
allele frequency: 1.652209830648492e-5
allele num: 121050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*73C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+666C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.271C>G
  hgvsp: ENSP00000275627.3:p.Arg91Gly
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*116C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*73C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+666C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.194C>G
  hgvsp: ENST00000473493.1:c.194C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.271C>G
  hgvsp: ENSP00000055077.3:p.Arg91Gly
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*276C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*218C>G
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg91Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-73663404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663404
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663404
    reference: chr 7
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.193C>T
  hgvsp: ENSP00000436840.1:p.Pro65Leu
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*217C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*275C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*72C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.270C>T
  hgvsp: ENST00000352131.3:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.270C>T
  hgvsp: ENST00000055077.3:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*72C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*115C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+665C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+665C>T
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro65Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-73663422-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663422
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663422
    reference: chr 7
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*97A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+647A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.252A>G
  hgvsp: ENST00000055077.3:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.252A>G
  hgvsp: ENST00000352131.3:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*199A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.175A>G
  hgvsp: ENSP00000436840.1:p.Gln59Arg
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*54A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*54A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+647A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*257A>G
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln59Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

7-73663424-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663424
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663424
    reference: chr 7
allele count: 12
allele frequency: 9.921291090680601e-5
allele num: 120952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*52A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.173A>T
  hgvsp: ENST00000473493.1:c.173A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+645A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+645A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.250A>T
  hgvsp: ENSP00000275627.3:p.Thr84Ser
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*52A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.250A>T
  hgvsp: ENSP00000055077.3:p.Thr84Ser
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*197A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*255A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*95A>T
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr84Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

7-73663424-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663424
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663424
    reference: chr 7
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.250A>G
  hgvsp: ENSP00000055077.3:p.Thr84Ala
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*95A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*52A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*52A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+645A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.173A>G
  hgvsp: ENST00000473493.1:c.173A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.250A>G
  hgvsp: ENSP00000275627.3:p.Thr84Ala
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+645A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*197A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*255A>G
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9315
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr84Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

7-73663433-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663433
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663433
    reference: chr 7
allele count: 2
allele frequency: 1.654752449033625e-5
allele num: 120864
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.241G>A
  hgvsp: ENSP00000055077.3:p.Gly81Ser
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.164G>A
  hgvsp: ENST00000473493.1:c.164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+636G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*246G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.241G>A
  hgvsp: ENSP00000275627.3:p.Gly81Ser
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*43G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*43G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+636G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*188G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*86G>A
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly81Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

7-73663434-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663434
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663434
    reference: chr 7
allele count: 9
allele frequency: 7.448358050847458e-5
allele num: 120832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.163C>T
  hgvsp: ENSP00000436840.1:p.Pro55Leu
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*187C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.240C>T
  hgvsp: ENST00000055077.3:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.240C>T
  hgvsp: ENST00000352131.3:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+635C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*245C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*85C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+635C>T
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Pro55Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

7-73663434-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663434
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663434
    reference: chr 7
allele count: 1
allele frequency: 8.275953389830508e-6
allele num: 120832
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.240C>G
  hgvsp: ENST00000352131.3:c.240C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*42C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.240C>G
  hgvsp: ENST00000055077.3:c.240C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.163C>G
  hgvsp: ENSP00000436840.1:p.Pro55Arg
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*245C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*187C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+635C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*85C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*42C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+635C>G
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro55Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

7-73663437-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663437
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663437
    reference: chr 7
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*242A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+632A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*39A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*184A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.160A>G
  hgvsp: ENSP00000436840.1:p.Glu54Gly
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*82A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+632A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.237A>G
  hgvsp: ENST00000055077.3:c.237A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*39A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.237A>G
  hgvsp: ENST00000352131.3:c.237A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu54Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

7-73663444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663444
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663444
    reference: chr 7
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.230C>T
  hgvsp: ENSP00000275627.3:p.Pro77Leu
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+625C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.230C>T
  hgvsp: ENSP00000055077.3:p.Pro77Leu
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*177C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.153C>T
  hgvsp: ENSP00000436840.1:p.Leu52Phe
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*75C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*235C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+625C>T
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31546
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro77Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

7-73663446-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663446
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663446
    reference: chr 7
allele count: 4
allele frequency: 3.314825557305047e-5
allele num: 120670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.228C>T
  hgvsp: ENST00000055077.3:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.228C>T
  hgvsp: ENST00000352131.3:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.151C>T
  hgvsp: ENSP00000436840.1:p.Ala51Val
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*73C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*175C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*233C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+623C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+623C>T
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala51Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

7-73663451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663451
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663451
    reference: chr 7
allele count: 1443
allele frequency: 1.196934255710944e-2
allele num: 120558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+618C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-3C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*170C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-3C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-3C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+618C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-3C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-3C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 31384
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 10401
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 3.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 469
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 14432
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
hgvs: c.226-3C>T
num of homozygotes: 17
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

7-73663453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663453
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663453
    reference: chr 7
allele count: 1
allele frequency: 8.298479718515568e-6
allele num: 120504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-5C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+616C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-5C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-5C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-5C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-5C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+616C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*23C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*168C>T
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10572
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14757
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.226-5C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

7-73663455-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663455
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663455
    reference: chr 7
allele count: 1
allele frequency: 8.303440945927993e-6
allele num: 120432
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-7T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-7T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+614T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*21T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-7T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-7T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+614T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*166T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*21T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-7T>C
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.226-7T>C
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

7-73663455-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663455
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663455
    reference: chr 7
allele count: 1
allele frequency: 8.303440945927993e-6
allele num: 120432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*21T>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*166T>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-7T>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-7T>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+614T>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-7T>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*21T>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-7T>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+614T>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-7T>A
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.226-7T>A
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

7-73663457-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663457
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663457
    reference: chr 7
allele count: 1
allele frequency: 8.30923654734603e-6
allele num: 120348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-9C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*164C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*19C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-9C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-9C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+612C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-9C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*19C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+612C>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-9C>G
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

7-73663461-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663461
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663461
    reference: chr 7
allele count: 8
allele frequency: 6.653913332778841e-5
allele num: 120230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-13A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-13A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*15A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+608A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*160A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-13A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*15A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-13A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+608A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-13A>T
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

7-73663469-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663469
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663469
    reference: chr 7
allele count: 1
allele frequency: 8.357709987463435e-6
allele num: 119650
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-21T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-21T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-21T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+600T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-21T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.*7T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*152T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.*7T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+600T>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-21T>C
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

7-73663477-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663477
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663477
    reference: chr 7
allele count: 15
allele frequency: 1.26014416049196e-4
allele num: 119034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+592G>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-29G>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-29G>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.225G>C
  hgvsp: ENSP00000420513.1:p.Ter76SerextTer?
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-29G>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-29G>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*144G>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.305G>C
  hgvsp: ENSP00000419827.1:p.Ter102SerextTer?
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+592G>C
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-29G>C
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14416
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ter76SerextTer?
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

7-73663484-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663484
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663484
    reference: chr 7
allele count: 1
allele frequency: 8.481764206955047e-6
allele num: 117900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*137G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-36G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.218G>A
  hgvsp: ENSP00000420513.1:p.Val74Met
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-36G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-36G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-36G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.298G>A
  hgvsp: ENSP00000419827.1:p.Val100Met
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-36G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+585G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+585G>A
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val74Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

7-73663487-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663487
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663487
    reference: chr 7
allele count: 1
allele frequency: 8.508900309723971e-6
allele num: 117524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*134C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-39C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+582C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-39C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.295C>T
  hgvsp: ENST00000463194.1:c.295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-39C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-39C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.215C>T
  hgvsp: ENST00000470266.1:c.215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+582C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-39C>T
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13941
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44033
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu73Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

7-73663493-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663493
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663493
    reference: chr 7
allele count: 17
allele frequency: 1.474388995854365e-4
allele num: 115302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-45G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-45G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-45G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+576G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.209G>A
  hgvsp: ENSP00000420513.1:p.Val71Ile
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*128G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+576G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-45G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.289G>A
  hgvsp: ENSP00000419827.1:p.Val97Ile
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-45G>A
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13227
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val71Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

7-73663494-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663494
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663494
    reference: chr 7
allele count: 2
allele frequency: 1.745931978490118e-5
allele num: 114552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.288G>A
  hgvsp: ENST00000463194.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*127G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-46G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-46G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.208G>A
  hgvsp: ENST00000470266.1:c.208G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+575G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-46G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-46G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+575G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-46G>A
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28839
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu70Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

7-73663496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663496
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663496
    reference: chr 7
allele count: 1
allele frequency: 8.733929569591951e-6
allele num: 114496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+573G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.206G>A
  hgvsp: ENSP00000420513.1:p.Glu70Lys
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*125G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-48G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-48G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-48G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-48G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-48G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.286G>A
  hgvsp: ENSP00000419827.1:p.Glu96Lys
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+573G>A
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41209
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu70Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-73663498-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663498
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663498
    reference: chr 7
allele count: 2
allele frequency: 1.771981429634617e-5
allele num: 112868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.284C>T
  hgvsp: ENSP00000419827.1:p.Pro95Leu
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+571C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-50C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-50C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-50C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.204C>T
  hgvsp: ENSP00000420513.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*123C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-50C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+571C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-50C>T
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27821
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39286
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro69Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

7-73663505-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663505
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663503
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 108980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+562_209+563delAA
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-59_*231-58delAA
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.195_196delAA
  hgvsp: ENSP00000420513.1:p.Gln66ArgfsTer4
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-59_226-58delAA
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+562_225+563delAA
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.275_276delAA
  hgvsp: ENSP00000419827.1:p.Gln92ArgfsTer4
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-59_226-58delAA
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-59_149-58delAA
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*114_*115delAA
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-59_*71-58delAA
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln66ArgfsTer4
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: CTT
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

7-73663507-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663507
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663507
    reference: chr 7
allele count: 1
allele frequency: 9.347192103492111e-6
allele num: 106984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-59A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.275A>G
  hgvsp: ENSP00000419827.1:p.Gln92Arg
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-59A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+562A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*114A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-59A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.195A>G
  hgvsp: ENSP00000420513.1:p.Gln66Arg
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+562A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-59A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-59A>G
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6657
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln66Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

7-73663516-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663516
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663516
    reference: chr 7
allele count: 1
allele frequency: 1.013623094388583e-5
allele num: 98656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.186A>G
  hgvsp: ENSP00000420513.1:p.Asn63Ser
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-68A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-68A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-68A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+553A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-68A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+553A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-68A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.266A>G
  hgvsp: ENSP00000419827.1:p.Asn89Ser
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*105A>G
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn63Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

7-73663527-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663527
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663527
    reference: chr 7
allele count: 1
allele frequency: 1.183235913576449e-5
allele num: 84514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-79A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.175A>T
  hgvsp: ENSP00000420513.1:p.Gln59His
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-79A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+542A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*94A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.255A>T
  hgvsp: ENSP00000419827.1:p.Gln85His
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-79A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-79A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+542A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-79A>T
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln59His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

7-73663527-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663527
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663527
    reference: chr 7
allele count: 1
allele frequency: 1.183235913576449e-5
allele num: 84514
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-79A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.255A>G
  hgvsp: ENST00000463194.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+542A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+542A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-79A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-79A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-79A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-79A>G
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.175A>G
  hgvsp: ENST00000470266.1:c.175A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*94A>G
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18199
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln59Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

7-73663536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663536
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663536
    reference: chr 7
allele count: 6
allele frequency: 8.505088878178777e-5
allele num: 70546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+533G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*85G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.246G>A
  hgvsp: ENST00000463194.1:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.166G>A
  hgvsp: ENST00000470266.1:c.166G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-88G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-88G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+533G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-88G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-88G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-88G>A
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19936
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr56Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

7-73663537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663537
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663537
    reference: chr 7
allele count: 3
allele frequency: 4.361479413817166e-5
allele num: 68784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-89C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-89C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-89C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+532C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-89C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*84C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.165C>T
  hgvsp: ENSP00000420513.1:p.Thr56Met
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.245C>T
  hgvsp: ENSP00000419827.1:p.Thr82Met
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+532C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-89C>T
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr56Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/7-73663539-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663539
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663539
    reference: chr 7
allele count: 1
allele frequency: 1.512172992590352e-5
allele num: 66130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*82G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-91G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-91G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-91G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.163G>T
  hgvsp: ENST00000470266.1:c.163G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.243G>T
  hgvsp: ENST00000463194.1:c.243G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-91G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+530G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+530G>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-91G>T
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19549
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val55Val
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

7-73663541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663541
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663541
    reference: chr 7
allele count: 1
allele frequency: 1.629832453223809e-5
allele num: 61356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-93G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-93G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-93G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.161G>A
  hgvsp: ENSP00000420513.1:p.Val55Met
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.241G>A
  hgvsp: ENSP00000419827.1:p.Val81Met
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+528G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-93G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-93G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*80G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+528G>A
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val55Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD

7-73663542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663542
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663542
    reference: chr 7
allele count: 1
allele frequency: 1.63377336295909e-5
allele num: 61208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-94G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.240G>A
  hgvsp: ENST00000463194.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.160G>A
  hgvsp: ENST00000470266.1:c.160G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-94G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+527G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-94G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-94G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*79G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-94G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+527G>A
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20592
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu54Glu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

7-73663549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663549
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663549
    reference: chr 7
allele count: 1
allele frequency: 1.912923712602341e-5
allele num: 52276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-101G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.153G>A
  hgvsp: ENSP00000420513.1:p.Gly52Glu
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-101G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*72G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-101G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+520G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-101G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.233G>A
  hgvsp: ENSP00000419827.1:p.Gly78Glu
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+520G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-101G>A
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly52Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

7-73663556-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663556
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663556
    reference: chr 7
allele count: 1
allele frequency: 2.166377816291161e-5
allele num: 46160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-108A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*71-6A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.232-6A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.152-6A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-108A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-108A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-108A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+513A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+513A>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-108A>T
  variant of: http://identifiers.org/hgnc/9970
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14034
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 2.75e1
  variant carriers: 0
hgvs: c.*71-6A>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

7-73663584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663584
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663584
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 24674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*71-34G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.232-34G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-136G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-136G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+485G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-136G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-136G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.152-34G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+485G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-136G>A
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17117
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

7-73663592-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73663592
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73663592
    reference: chr 7
allele count: 1
allele frequency: 4.970178926441352e-5
allele num: 20120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+477G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.149-144G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.152-42G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.226-144G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*71-144G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.232-42G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.226-144G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+477G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*71-42G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*231-144G>A
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17918
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26950
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7538
  bin: 2.25e1
  variant carriers: 0
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: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

7-73664018-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73664018
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73664018
    reference: chr 7
allele count: 3
allele frequency: 2.471454698235381e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+51G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.225+51G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.151+51G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*70+51G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+51G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*70+51G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.225+51G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.231+51G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.148+51G>A
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*230+51G>A
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

7-73664020-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73664020
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73664020
    reference: chr 7
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419827
  ensembl transcript: ENST00000463194
  gene symbol: RFC2
  hgvsc: ENST00000463194.1:c.231+49C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000419341
  ensembl transcript: ENST00000494019
  gene symbol: RFC2
  hgvsc: ENST00000494019.1:c.209+49C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420513
  ensembl transcript: ENST00000470266
  gene symbol: RFC2
  hgvsc: ENST00000470266.1:c.151+49C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000436840
  ensembl transcript: ENST00000473493
  gene symbol: RFC2
  hgvsc: ENST00000473493.1:c.148+49C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000275627
  ensembl transcript: ENST00000352131
  gene symbol: RFC2
  hgvsc: ENST00000352131.3:c.225+49C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420731
  ensembl transcript: ENST00000491206
  gene symbol: RFC2
  hgvsc: ENST00000491206.1:c.*70+49C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000055077
  ensembl transcript: ENST00000055077
  gene symbol: RFC2
  hgvsc: ENST00000055077.3:c.225+49C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420563
  ensembl transcript: ENST00000493156
  gene symbol: RFC2
  hgvsc: ENST00000493156.2:c.*230+49C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000420392
  ensembl transcript: ENST00000479105
  gene symbol: RFC2
  hgvsc: ENST00000479105.2:c.*70+49C>T
  variant of: http://identifiers.org/hgnc/9970
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000049541
  ensembl protein: ENSP00000418899
  ensembl transcript: ENST00000480432
  gene symbol: RFC2
  hgvsc: ENST00000480432.1:c.225+49C>T
  variant of: http://identifiers.org/hgnc/9970
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1128
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4874
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3695
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2280
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6061
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4455
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10464
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2955
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 2.320998e6

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

QD
type: SiteQuality
SIO_000300: 1.482e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
all individuals: 3692
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2191
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4744
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8607
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2786
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5223
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
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: 1
allele frequency: 1.505434618974498e-5
allele num: 66426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
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: 16208
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.159e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

VQSLOD
type: SiteQuality
SIO_000300: -4.711e-1

DP
type: SiteQuality
SIO_000300: 2.307112e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.14e0

QD
type: SiteQuality
SIO_000300: 1.144e1

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8728
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3729
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 458
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40418
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.439917042820544e-4
allele num: 16394
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: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.311e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.893e0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.743938e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3722
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 422
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41176
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8776
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
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: 1.505615947484116e-5
allele num: 66418
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.124e0

MQRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.01e-1

QD
type: SiteQuality
SIO_000300: 1.436e1

DP
type: SiteQuality
SIO_000300: 1.746198e6

MQ
type: SiteQuality
SIO_000300: 5.91e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41395
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1583
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 485
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8782
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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: 16408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.918e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

DP
type: SiteQuality
SIO_000300: 1.747082e6

VQSLOD
type: SiteQuality
SIO_000300: -5.003e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

QD
type: SiteQuality
SIO_000300: 1.664e1

MQRankSum
type: SiteQuality
SIO_000300: -1.046e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3721
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41515
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8787
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.089392278650591e-5
allele num: 16422
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.276e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.037e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

QD
type: SiteQuality
SIO_000300: 1.182e1

DP
type: SiteQuality
SIO_000300: 1.747821e6

GenotypeQuality
all individuals: 1575
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8777
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
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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bin: 9.75e1
variant carriers: 1

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: 10130
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.088650754992694e-5
allele num: 16424
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.008e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
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SIO_000300: 1.750661e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.349e0

MQRankSum
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SIO_000300: 1.71e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

VQSLOD
type: SiteQuality
SIO_000300: -2.764e-1

MQ
type: SiteQuality
SIO_000300: 5.809e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505479947007106e-5
allele num: 66424
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.751457e6

ReadPosRankSum
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QD
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SIO_000300: 1.33e1

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
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MQ
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SIO_000300: 5.917e1

FS
type: SiteQuality
SIO_000300: 3.108e0

VQSLOD
type: SiteQuality
SIO_000300: 2.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.234e0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
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: 896
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

ReadPosRankSum
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SIO_000300: 2.91e-1

FS
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SIO_000300: 1.868e0

QD
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InbreedingCoeff
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SIO_000300: 1.0e-3

ClippingRankSum
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SIO_000300: -8.22e-1

MQRankSum
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MQ
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SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.757583e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e-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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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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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: 6606
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.331254331254331e-4
allele num: 11544
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

FS
type: SiteQuality
SIO_000300: 1.868e0

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

DP
type: SiteQuality
SIO_000300: 1.757583e6

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 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: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 1.757583e6

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 1.868e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-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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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10150
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.22e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.481086098862845e-4
allele num: 8618
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.982e0

VQSLOD
type: SiteQuality
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MQ
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.758326e6

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: 5

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.512092407652509e-5
allele num: 66488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.031e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.759678e6

GenotypeQuality
all individuals: 3709
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43003
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.76018e6

MQ
type: SiteQuality
SIO_000300: 5.905e1

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.162e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.306e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

QD
type: SiteQuality
SIO_000300: 1.447e1

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
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GenotypeQuality
all individuals: 221
bin: 3.25e1
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GenotypeQuality
all individuals: 3708
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 67
bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8851
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variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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: 2
allele frequency: 3.007518796992481e-5
allele num: 66500
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.446e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.467e0

FS
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: 6.65e-1

DP
type: SiteQuality
SIO_000300: 1.76109e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1300
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1600
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
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GenotypeQuality
all individuals: 43437
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-1

QD
type: SiteQuality
SIO_000300: 1.509e1

MQ
type: SiteQuality
SIO_000300: 5.995e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.51e0

MQRankSum
type: SiteQuality
SIO_000300: -1.116e0

FS
type: SiteQuality
SIO_000300: 9.409999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.765087e6

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 559
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43533
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 3711
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8905
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.725734292939116e-5
allele num: 10282
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.558e0

FS
type: SiteQuality
SIO_000300: 5.537e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.208e0

QD
type: SiteQuality
SIO_000300: 1.775e1

DP
type: SiteQuality
SIO_000300: 1.767599e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.258e0

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

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 213
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 1620
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GenotypeQuality
all individuals: 1314
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
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GenotypeQuality
all individuals: 3710
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8916
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43627
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
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: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.924e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.286e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.76842e6

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

GenotypeQuality
all individuals: 8776
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4790
bin: 9.75e1
variant carriers: 3620

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 1511
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variant carriers: 1

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 213
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GenotypeQuality
all individuals: 1180
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 404
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variant carriers: 0

GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 43322
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 1

South Asian
type: Population
allele count: 131
allele frequency: 7.939393939393939e-3
allele num: 16500
num of homozygotes: 1

African
type: Population
allele count: 69
allele frequency: 6.69383003492433e-3
allele num: 10308
num of homozygotes: 0

Other
type: Population
allele count: 35
allele frequency: 3.854625550660793e-2
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3036
allele frequency: 4.558011049723757e-2
allele num: 66608
num of homozygotes: 75

Latino
type: Population
allele count: 182
allele frequency: 1.573577727822929e-2
allele num: 11566
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 256
allele frequency: 3.872919818456883e-2
allele num: 6610
num of homozygotes: 5

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

DP
type: SiteQuality
SIO_000300: 2.112346e6

FS
type: SiteQuality
SIO_000300: 5.84e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

QD
type: SiteQuality
SIO_000300: 1.345e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 46006
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GenotypeQuality
all individuals: 1254
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 433
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GenotypeQuality
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GenotypeQuality
all individuals: 163
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GenotypeQuality
all individuals: 56
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 246
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GenotypeQuality
all individuals: 1241
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GenotypeQuality
all individuals: 1592
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variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9360
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.939487975174554e-4
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.513e0

DP
type: SiteQuality
SIO_000300: 1.711127e6

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e0

MQ
type: SiteQuality
SIO_000300: 5.427e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.55e0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 84
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GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 280
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GenotypeQuality
all individuals: 131
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GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 39
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GenotypeQuality
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GenotypeQuality
all individuals: 428
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GenotypeQuality
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GenotypeQuality
all individuals: 164
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GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 109
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GenotypeQuality
all individuals: 9338
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 45813
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variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1240
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.709784e6

MQ
type: SiteQuality
SIO_000300: 5.935e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
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SIO_000300: -3.267e0

VQSLOD
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SIO_000300: -2.945e-1

FS
type: SiteQuality
SIO_000300: 2.232e0

MQRankSum
type: SiteQuality
SIO_000300: -1.405e0

QD
type: SiteQuality
SIO_000300: 1.232e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
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SIO_000300: -1.462e0

FS
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.70989e6

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
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SIO_000300: 2.312e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.357e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.718172983479106e-5
allele num: 10290
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
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: 66564
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

FS
type: SiteQuality
SIO_000300: 7.189e0

VQSLOD
type: SiteQuality
SIO_000300: -4.056e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

DP
type: SiteQuality
SIO_000300: 1.707871e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e0

QD
type: SiteQuality
SIO_000300: 2.457e1

GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

QD
type: SiteQuality
SIO_000300: 9.199999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -1.506e-1

DP
type: SiteQuality
SIO_000300: 1.707689e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 6.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e-1

MQ
type: SiteQuality
SIO_000300: 5.996e1

GenotypeQuality
all individuals: 1567
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variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

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

GenotypeQuality
all individuals: 308
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005891547432969e-5
allele num: 66536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.710623422023694e-5
allele num: 10298
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 7.52e-1

BaseQRankSum
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SIO_000300: -1.307e0

QD
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MQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.7069e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
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VQSLOD
type: SiteQuality
SIO_000300: -1.083e0

MQRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.805e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

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: 6

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.507617874207411e-5
allele num: 66554
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 9.689922480620155e-5
allele num: 10320
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MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

FS
type: SiteQuality
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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ReadPosRankSum
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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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South Asian
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allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

Latino
type: Population
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Other
type: Population
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
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European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

East Asian
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VQSLOD
type: SiteQuality
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BaseQRankSum
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FS
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QD
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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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
allele num: 6606
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Other
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allele frequency: 0.0e0
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African
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MQ
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SIO_000300: 5.91e1

MQRankSum
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DP
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
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VQSLOD
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ReadPosRankSum
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SIO_000300: -8.02e-1

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

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

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

MQ
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SIO_000300: 6.0e1

VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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DP
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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allele frequency: 6.065752759917505e-5
allele num: 16486
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 11
allele frequency: 1.654334356012753e-4
allele num: 66492
num of homozygotes: 0

Other
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Latino
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ClippingRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 1.708323e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.503940323647958e-5
allele num: 66492
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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BaseQRankSum
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SIO_000300: 3.02e0

InbreedingCoeff
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SIO_000300: 0.0e0

QD
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ReadPosRankSum
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FS
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DP
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MQRankSum
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
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South Asian
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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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African
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allele count: 1
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allele num: 10294
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East Asian
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allele count: 0
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MQ
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SIO_000300: 5.984e1

VQSLOD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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MQRankSum
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FS
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ReadPosRankSum
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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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South Asian
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allele frequency: 3.639451655950503e-4
allele num: 16486
num of homozygotes: 0

East Asian
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European (Non-Finnish)
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allele num: 66426
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European (Finnish)
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Latino
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African
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Other
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FS
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InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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allele num: 10282
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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Other
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East Asian
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European (Finnish)
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South Asian
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QD
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ClippingRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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Other
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MQ
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.704837e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

FS
type: SiteQuality
SIO_000300: 2.061e0

MQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 9.25e1
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GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45879
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9238
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507022725902707e-5
allele num: 66356
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

QD
type: SiteQuality
SIO_000300: 9.34e0

MQ
type: SiteQuality
SIO_000300: 5.797e1

FS
type: SiteQuality
SIO_000300: 1.637e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.704e0

VQSLOD
type: SiteQuality
SIO_000300: -1.797e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.702428e6

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

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

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 45872
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variant carriers: 0

GenotypeQuality
all individuals: 591
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1562
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 9239
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variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1200
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variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.030090149847741e-5
allele num: 66334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
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: 6600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

FS
type: SiteQuality
SIO_000300: 2.86e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.802e0

DP
type: SiteQuality
SIO_000300: 1.701955e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

QD
type: SiteQuality
SIO_000300: 1.32e1

MQRankSum
type: SiteQuality
SIO_000300: 8.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 45629
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1521
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 1

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 684
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1161
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1575
bin: 9.75e1
variant carriers: 1421

Latino
type: Population
allele count: 66
allele frequency: 5.726184279021343e-3
allele num: 11526
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.459839844697889e-4
allele num: 16484
num of homozygotes: 0

Other
type: Population
allele count: 12
allele frequency: 1.324503311258278e-2
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 97
allele frequency: 1.471034273582044e-2
allele num: 6594
num of homozygotes: 0

African
type: Population
allele count: 28
allele frequency: 2.73972602739726e-3
allele num: 10220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1231
allele frequency: 1.857384271832941e-2
allele num: 66276
num of homozygotes: 17

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.513e1

DP
type: SiteQuality
SIO_000300: 1.749914e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 6.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
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variant carriers: 0

GenotypeQuality
all individuals: 9390
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variant carriers: 0

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

GenotypeQuality
all individuals: 752
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46647
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 3.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509433962264151e-5
allele num: 66250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.628e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.513e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

DP
type: SiteQuality
SIO_000300: 1.667137e6

GenotypeQuality
all individuals: 93
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
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variant carriers: 0

GenotypeQuality
all individuals: 160
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variant carriers: 1

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 9386
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variant carriers: 0

GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 46623
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variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510437120502674e-5
allele num: 66206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.606e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.665929e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

QD
type: SiteQuality
SIO_000300: 1.589e1

VQSLOD
type: SiteQuality
SIO_000300: -5.987e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.99e-1

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 103
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variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

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

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 357
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510437120502674e-5
allele num: 66206
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.665929e6

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

FS
type: SiteQuality
SIO_000300: 1.606e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.987e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.99e0

QD
type: SiteQuality
SIO_000300: 1.589e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.99e-1

GenotypeQuality
all individuals: 46485
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 105
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GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 9366
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GenotypeQuality
all individuals: 354
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GenotypeQuality
all individuals: 101
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GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
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GenotypeQuality
all individuals: 158
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 2.5e0
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GenotypeQuality
all individuals: 93
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511715797430083e-5
allele num: 66150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.986e1

VQSLOD
type: SiteQuality
SIO_000300: -9.488e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.823e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.615e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

DP
type: SiteQuality
SIO_000300: 1.664495e6

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 111
bin: 3.25e1
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GenotypeQuality
all individuals: 1545
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GenotypeQuality
all individuals: 2
bin: 2.5e0
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GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9349
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46405
bin: 6.25e1
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GenotypeQuality
all individuals: 159
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
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European (Non-Finnish)
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allele count: 8
allele frequency: 1.210763689196961e-4
allele num: 66074
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 900
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QD
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MQRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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SIO_000300: 4.328e0

ReadPosRankSum
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SIO_000300: 6.37e-1

MQ
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SIO_000300: 5.952e1

VQSLOD
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ClippingRankSum
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SIO_000300: -4.66e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65726
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East Asian
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allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10090
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 8.0e-4

BaseQRankSum
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MQRankSum
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QD
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FS
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ClippingRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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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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variant carriers: 15

GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65340
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 15
allele frequency: 9.121868158598881e-4
allele num: 16444
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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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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FS
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QD
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.966e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546503355912282e-5
allele num: 64662
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

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

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

QD
type: SiteQuality
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VQSLOD
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BaseQRankSum
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SIO_000300: -2.487e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

FS
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SIO_000300: 1.038e0

ClippingRankSum
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SIO_000300: -5.78e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

DP
type: SiteQuality
SIO_000300: 1.616434e6

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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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

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

European (Finnish)
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allele 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: 64452
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African
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East Asian
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allele num: 8242
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Other
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ClippingRankSum
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ReadPosRankSum
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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FS
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MQRankSum
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SIO_000300: -1.062e0

VQSLOD
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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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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 63150
num of homozygotes: 0

African
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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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Other
type: Population
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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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South Asian
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allele frequency: 1.045253320216429e-3
allele num: 16264
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MQ
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ClippingRankSum
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MQRankSum
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 62732
num of homozygotes: 0

European (Finnish)
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African
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East Asian
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South Asian
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Latino
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Other
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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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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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South Asian
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Latino
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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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East Asian
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BaseQRankSum
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QD
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FS
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.54841997961264e-4
allele num: 7848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9496
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
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SIO_000300: 1.503111e6

MQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.555e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.289e0

GenotypeQuality
all individuals: 850
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59546
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

DP
type: SiteQuality
SIO_000300: 1.416364e6

MQ
type: SiteQuality
SIO_000300: 5.863e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

QD
type: SiteQuality
SIO_000300: 9.5e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9070
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.713502398903358e-5
allele num: 58360
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.227e0

VQSLOD
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SIO_000300: 3.04e-1

MQ
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SIO_000300: 6.0e1

QD
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MQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

InbreedingCoeff
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SIO_000300: -3.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e0

DP
type: SiteQuality
SIO_000300: 1.373111e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.632179334129194e-5
allele num: 15078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53634
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

QD
type: SiteQuality
SIO_000300: 1.66e1

DP
type: SiteQuality
SIO_000300: 1.205835e6

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.885e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45412
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.187005893344832e-5
allele num: 13914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7104
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

BaseQRankSum
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SIO_000300: 3.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

MQRankSum
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

MQ
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SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.63476e5

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: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.202061129216947e-5
allele num: 45412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7104
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.137e1

DP
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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SIO_000300: 9.409999999999999e-1

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.050233456770246e-5
allele num: 37266
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5468
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 4.416961130742049e-4
allele num: 4528
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.748334108166744e-5
allele num: 12906
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.273e1

InbreedingCoeff
type: SiteQuality
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5922
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4430
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.353679585752393e-4
allele num: 12746
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.944e0

VQSLOD
type: SiteQuality
SIO_000300: -6.695e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

DP
type: SiteQuality
SIO_000300: 7.72239e5

MQ
type: SiteQuality
SIO_000300: 5.9e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

QD
type: SiteQuality
SIO_000300: 8.51e0

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
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
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.872407652093985e-5
allele num: 34814
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3496
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.71e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
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SIO_000300: -1.733e0

DP
type: SiteQuality
SIO_000300: 7.4474e5

QD
type: SiteQuality
SIO_000300: 4.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.333e0

VQSLOD
type: SiteQuality
SIO_000300: -2.711e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

South Asian
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allele frequency: 0.0e0
allele num: 12228
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.10887272275073e-5
allele num: 32166
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4140
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

QD
type: SiteQuality
SIO_000300: 1.052e1

DP
type: SiteQuality
SIO_000300: 7.10075e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4142
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.103662321539416e-4
allele num: 3222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12218
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.95e-2

FS
type: SiteQuality
SIO_000300: 1.204e0

DP
type: SiteQuality
SIO_000300: 7.08525e5

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.549e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.327e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

GenotypeQuality
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variant carriers: 1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3044
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.685413134812413e-5
allele num: 27134
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.765e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.12e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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DP
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SIO_000300: 6.44554e5

ClippingRankSum
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SIO_000300: 1.3e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 404
num of homozygotes: 0

European (Finnish)
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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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10948
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.610966057441253e-4
allele num: 3830
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2390
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 23694
num of homozygotes: 0

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

Latino
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allele count: 0
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allele num: 808
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
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African
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South Asian
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European (Finnish)
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Other
type: Population
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East Asian
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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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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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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European (Non-Finnish)
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allele num: 8256
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South Asian
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African
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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VQSLOD
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FS
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MQRankSum
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6044
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 10470
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2568
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.02e-1

FS
type: SiteQuality
SIO_000300: 5.833e0

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

DP
type: SiteQuality
SIO_000300: 1.99819e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.868e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

QD
type: SiteQuality
SIO_000300: 1.131e1