17-71232958-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71232958
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71232958
    reference: chr 17
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1337A>G
  hgvsp: ENSP00000351937.2:p.Asn446Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1337A>G
  hgvsp: ENSP00000268942.8:p.Asn446Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1337A>G
  hgvsp: ENSP00000255557.4:p.Asn446Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3494A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1337A>G
  hgvsp: ENSP00000396970.2:p.Asn446Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1337A>G
  hgvsp: ENSP00000440551.2:p.Asn446Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1337A>G
  hgvsp: ENSP00000464132.1:p.Asn446Ser
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3757
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19946
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn446Ser
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

17-71232961-ATGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71232961
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71232958
    reference: chr 17
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1344_1346delTGC
  hgvsp: ENSP00000440551.2:p.Ala451del
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1344_1346delTGC
  hgvsp: ENSP00000396970.2:p.Ala451del
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3501_-81+3503delTGC
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1344_1346delTGC
  hgvsp: ENSP00000464132.1:p.Ala451del
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1344_1346delTGC
  hgvsp: ENSP00000255557.4:p.Ala451del
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1344_1346delTGC
  hgvsp: ENSP00000268942.8:p.Ala451del
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1344_1346delTGC
  hgvsp: ENSP00000351937.2:p.Ala451del
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17076
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala451del
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: ATGC
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS

17-71232962-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71232962
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71232962
    reference: chr 17
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1341T>C
  hgvsp: ENST00000535032.2:c.1341T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1341T>C
  hgvsp: ENST00000426147.2:c.1341T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1341T>C
  hgvsp: ENST00000359042.2:c.1341T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1341T>C
  hgvsp: ENST00000268942.8:c.1341T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1341T>C
  hgvsp: ENST00000255557.4:c.1341T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1341T>C
  hgvsp: ENST00000577615.1:c.1341T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3498T>C
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4322
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His447His
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/17-71232964-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71232964
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71232964
    reference: chr 17
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1343C>A
  hgvsp: ENSP00000255557.4:p.Ala448Asp
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3500C>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1343C>A
  hgvsp: ENSP00000351937.2:p.Ala448Asp
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1343C>A
  hgvsp: ENSP00000268942.8:p.Ala448Asp
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1343C>A
  hgvsp: ENSP00000396970.2:p.Ala448Asp
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1343C>A
  hgvsp: ENSP00000440551.2:p.Ala448Asp
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1343C>A
  hgvsp: ENSP00000464132.1:p.Ala448Asp
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7606
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala448Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

17-71232968-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71232968
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71232968
    reference: chr 17
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1347A>G
  hgvsp: ENST00000535032.2:c.1347A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1347A>G
  hgvsp: ENST00000359042.2:c.1347A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1347A>G
  hgvsp: ENST00000255557.4:c.1347A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1347A>G
  hgvsp: ENST00000268942.8:c.1347A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1347A>G
  hgvsp: ENST00000577615.1:c.1347A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1347A>G
  hgvsp: ENST00000426147.2:c.1347A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3504A>G
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3753
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7146
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala449Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-71232969-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71232969
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71232969
    reference: chr 17
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1348G>C
  hgvsp: ENSP00000255557.4:p.Ala450Pro
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1348G>C
  hgvsp: ENSP00000396970.2:p.Ala450Pro
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3505G>C
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1348G>C
  hgvsp: ENSP00000464132.1:p.Ala450Pro
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1348G>C
  hgvsp: ENSP00000351937.2:p.Ala450Pro
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1348G>C
  hgvsp: ENSP00000268942.8:p.Ala450Pro
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1348G>C
  hgvsp: ENSP00000440551.2:p.Ala450Pro
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala450Pro
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS

17-71232971-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71232971
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71232971
    reference: chr 17
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1350T>G
  hgvsp: ENST00000577615.1:c.1350T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1350T>G
  hgvsp: ENST00000535032.2:c.1350T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1350T>G
  hgvsp: ENST00000359042.2:c.1350T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1350T>G
  hgvsp: ENST00000426147.2:c.1350T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1350T>G
  hgvsp: ENST00000268942.8:c.1350T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1350T>G
  hgvsp: ENST00000255557.4:c.1350T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3507T>G
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala450Ala
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/17-71232990-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71232990
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71232990
    reference: chr 17
allele count: 4380
allele frequency: 3.610346362452398e-2
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1369C>A
  hgvsp: ENSP00000440551.2:p.Arg457Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1369C>A
  hgvsp: ENSP00000396970.2:p.Arg457Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1369C>A
  hgvsp: ENSP00000255557.4:p.Arg457Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3526C>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1369C>A
  hgvsp: ENSP00000351937.2:p.Arg457Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1369C>A
  hgvsp: ENSP00000268942.8:p.Arg457Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1369C>A
  hgvsp: ENSP00000464132.1:p.Arg457Ser
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10448
  bin: 3.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.75e1
  variant carriers: 387
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 5.25e1
  variant carriers: 289
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.25e1
  variant carriers: 397
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.75e1
  variant carriers: 290
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15114
  bin: 2.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 3.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 9.75e1
  variant carriers: 652
genotype depth: GenotypeDepth
  all individuals: 6197
  bin: 4.25e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.25e1
  variant carriers: 327
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 5.75e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 4.75e1
  variant carriers: 240
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.75e1
  variant carriers: 365
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 360
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.25e1
  variant carriers: 217
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7022
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Arg457Ser
num of homozygotes: 115
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

17-71232991-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71232991
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71232991
    reference: chr 17
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1370G>A
  hgvsp: ENSP00000396970.2:p.Arg457His
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1370G>A
  hgvsp: ENSP00000464132.1:p.Arg457His
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1370G>A
  hgvsp: ENSP00000255557.4:p.Arg457His
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1370G>A
  hgvsp: ENSP00000440551.2:p.Arg457His
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3527G>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1370G>A
  hgvsp: ENSP00000268942.8:p.Arg457His
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1370G>A
  hgvsp: ENSP00000351937.2:p.Arg457His
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg457His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

17-71232999-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71232999
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71232999
    reference: chr 17
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1378A>G
  hgvsp: ENSP00000255557.4:p.Met460Val
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1378A>G
  hgvsp: ENSP00000351937.2:p.Met460Val
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1378A>G
  hgvsp: ENSP00000268942.8:p.Met460Val
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1378A>G
  hgvsp: ENSP00000464132.1:p.Met460Val
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1378A>G
  hgvsp: ENSP00000440551.2:p.Met460Val
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1378A>G
  hgvsp: ENSP00000396970.2:p.Met460Val
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3535A>G
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met460Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-71233007-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233007
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233007
    reference: chr 17
allele count: 48
allele frequency: 3.958110002473818e-4
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1386G>A
  hgvsp: ENST00000255557.4:c.1386G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1386G>A
  hgvsp: ENST00000426147.2:c.1386G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1386G>A
  hgvsp: ENST00000268942.8:c.1386G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1386G>A
  hgvsp: ENST00000535032.2:c.1386G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1386G>A
  hgvsp: ENST00000577615.1:c.1386G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1386G>A
  hgvsp: ENST00000359042.2:c.1386G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3543G>A
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu462Leu
num of homozygotes: 2
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-71233012-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233012
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233012
    reference: chr 17
allele count: 2
allele frequency: 1.649538953862396e-5
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1391G>A
  hgvsp: ENSP00000351937.2:p.Trp464Ter
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1391G>A
  hgvsp: ENSP00000396970.2:p.Trp464Ter
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1391G>A
  hgvsp: ENSP00000255557.4:p.Trp464Ter
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3548G>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1391G>A
  hgvsp: ENSP00000268942.8:p.Trp464Ter
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1391G>A
  hgvsp: ENSP00000464132.1:p.Trp464Ter
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1391G>A
  hgvsp: ENSP00000440551.2:p.Trp464Ter
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4426
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp464Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-71233012-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233012
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233012
    reference: chr 17
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1391G>C
  hgvsp: ENSP00000464132.1:p.Trp464Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1391G>C
  hgvsp: ENSP00000268942.8:p.Trp464Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1391G>C
  hgvsp: ENSP00000440551.2:p.Trp464Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1391G>C
  hgvsp: ENSP00000396970.2:p.Trp464Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1391G>C
  hgvsp: ENSP00000351937.2:p.Trp464Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3548G>C
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1391G>C
  hgvsp: ENSP00000255557.4:p.Trp464Ser
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4426
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Trp464Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-71233019-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233019
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233019
    reference: chr 17
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1398A>G
  hgvsp: ENST00000577615.1:c.1398A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1398A>G
  hgvsp: ENST00000268942.8:c.1398A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1398A>G
  hgvsp: ENST00000535032.2:c.1398A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1398A>G
  hgvsp: ENST00000255557.4:c.1398A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1398A>G
  hgvsp: ENST00000359042.2:c.1398A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3555A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1398A>G
  hgvsp: ENST00000426147.2:c.1398A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro466Pro
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

17-71233023-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233023
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233023
    reference: chr 17
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1402C>T
  hgvsp: ENSP00000351937.2:p.Leu468Phe
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1402C>T
  hgvsp: ENSP00000396970.2:p.Leu468Phe
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1402C>T
  hgvsp: ENSP00000464132.1:p.Leu468Phe
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3559C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1402C>T
  hgvsp: ENSP00000268942.8:p.Leu468Phe
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1402C>T
  hgvsp: ENSP00000440551.2:p.Leu468Phe
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1402C>T
  hgvsp: ENSP00000255557.4:p.Leu468Phe
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3808
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu468Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

17-71233027-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233027
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233027
    reference: chr 17
allele count: 6
allele frequency: 4.953928465272961e-5
allele num: 121116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1406A>G
  hgvsp: ENSP00000440551.2:p.Tyr469Cys
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1406A>G
  hgvsp: ENSP00000351937.2:p.Tyr469Cys
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1406A>G
  hgvsp: ENSP00000464132.1:p.Tyr469Cys
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1406A>G
  hgvsp: ENSP00000268942.8:p.Tyr469Cys
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1406A>G
  hgvsp: ENSP00000255557.4:p.Tyr469Cys
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3563A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1406A>G
  hgvsp: ENSP00000396970.2:p.Tyr469Cys
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr469Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-71233043-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233043
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233043
    reference: chr 17
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1422A>T
  hgvsp: ENST00000577615.1:c.1422A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1422A>T
  hgvsp: ENST00000255557.4:c.1422A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1422A>T
  hgvsp: ENST00000268942.8:c.1422A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1422A>T
  hgvsp: ENST00000426147.2:c.1422A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1422A>T
  hgvsp: ENST00000535032.2:c.1422A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3579A>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1422A>T
  hgvsp: ENST00000359042.2:c.1422A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14459
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly474Gly
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-71233044-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233044
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233044
    reference: chr 17
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1423C>A
  hgvsp: ENSP00000464132.1:p.Leu475Ile
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1423C>A
  hgvsp: ENSP00000255557.4:p.Leu475Ile
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1423C>A
  hgvsp: ENSP00000396970.2:p.Leu475Ile
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1423C>A
  hgvsp: ENSP00000268942.8:p.Leu475Ile
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1423C>A
  hgvsp: ENSP00000351937.2:p.Leu475Ile
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1423C>A
  hgvsp: ENSP00000440551.2:p.Leu475Ile
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3580C>A
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3782
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21690
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu475Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

17-71233045-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233045
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233045
    reference: chr 17
allele count: 8
allele frequency: 6.624819887709302e-5
allele num: 120758
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1424T>C
  hgvsp: ENSP00000351937.2:p.Leu475Pro
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1424T>C
  hgvsp: ENSP00000396970.2:p.Leu475Pro
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1424T>C
  hgvsp: ENSP00000440551.2:p.Leu475Pro
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1424T>C
  hgvsp: ENSP00000268942.8:p.Leu475Pro
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1424T>C
  hgvsp: ENSP00000255557.4:p.Leu475Pro
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1424T>C
  hgvsp: ENSP00000464132.1:p.Leu475Pro
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3581T>C
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10881
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21672
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu475Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-71233047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233047
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233047
    reference: chr 17
allele count: 2
allele frequency: 1.65708320214758e-5
allele num: 120694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1426G>A
  hgvsp: ENSP00000396970.2:p.Gly476Arg
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1426G>A
  hgvsp: ENSP00000440551.2:p.Gly476Arg
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1426G>A
  hgvsp: ENSP00000351937.2:p.Gly476Arg
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1426G>A
  hgvsp: ENSP00000268942.8:p.Gly476Arg
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1426G>A
  hgvsp: ENSP00000464132.1:p.Gly476Arg
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1426G>A
  hgvsp: ENSP00000255557.4:p.Gly476Arg
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3583G>A
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14444
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gly476Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-71233049-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233049
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233049
    reference: chr 17
allele count: 3
allele frequency: 2.488139866635703e-5
allele num: 120572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1428G>T
  hgvsp: ENST00000255557.4:c.1428G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1428G>T
  hgvsp: ENST00000268942.8:c.1428G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1428G>T
  hgvsp: ENST00000535032.2:c.1428G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1428G>T
  hgvsp: ENST00000359042.2:c.1428G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1428G>T
  hgvsp: ENST00000426147.2:c.1428G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3585G>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1428G>T
  hgvsp: ENST00000577615.1:c.1428G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10824
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly476Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-71233049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233049
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233049
    reference: chr 17
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1428G>A
  hgvsp: ENST00000255557.4:c.1428G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1428G>A
  hgvsp: ENST00000268942.8:c.1428G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3585G>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1428G>A
  hgvsp: ENST00000426147.2:c.1428G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1428G>A
  hgvsp: ENST00000535032.2:c.1428G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1428G>A
  hgvsp: ENST00000359042.2:c.1428G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1428G>A
  hgvsp: ENST00000577615.1:c.1428G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14444
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly476Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

17-71233054-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233054
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233054
    reference: chr 17
allele count: 1
allele frequency: 8.301510874979247e-6
allele num: 120460
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1433T>G
  hgvsp: ENSP00000351937.2:p.Leu478Trp
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1433T>G
  hgvsp: ENSP00000255557.4:p.Leu478Trp
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3590T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1433T>G
  hgvsp: ENSP00000396970.2:p.Leu478Trp
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1433T>G
  hgvsp: ENSP00000268942.8:p.Leu478Trp
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1433T>G
  hgvsp: ENSP00000440551.2:p.Leu478Trp
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1433T>G
  hgvsp: ENSP00000464132.1:p.Leu478Trp
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14435
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3767
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu478Trp
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

17-71233056-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233056
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233056
    reference: chr 17
allele count: 1
allele frequency: 8.308546170591069e-6
allele num: 120358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1435C>T
  hgvsp: ENSP00000351937.2:p.Pro479Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3592C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1435C>T
  hgvsp: ENSP00000396970.2:p.Pro479Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1435C>T
  hgvsp: ENSP00000268942.8:p.Pro479Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1435C>T
  hgvsp: ENSP00000440551.2:p.Pro479Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1435C>T
  hgvsp: ENSP00000255557.4:p.Pro479Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1435C>T
  hgvsp: ENSP00000464132.1:p.Pro479Ser
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7493
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro479Ser
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-71233058-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233058
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233058
    reference: chr 17
allele count: 1
allele frequency: 8.312275568559649e-6
allele num: 120304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1437A>C
  hgvsp: ENST00000255557.4:c.1437A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3594A>C
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1437A>C
  hgvsp: ENST00000268942.8:c.1437A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1437A>C
  hgvsp: ENST00000359042.2:c.1437A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1437A>C
  hgvsp: ENST00000535032.2:c.1437A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1437A>C
  hgvsp: ENST00000426147.2:c.1437A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1437A>C
  hgvsp: ENST00000577615.1:c.1437A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro479Pro
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-71233083-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233083
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233083
    reference: chr 17
allele count: 9
allele frequency: 7.582906443785387e-5
allele num: 118688
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1462A>G
  hgvsp: ENSP00000255557.4:p.Met488Val
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1462A>G
  hgvsp: ENSP00000268942.8:p.Met488Val
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1462A>G
  hgvsp: ENSP00000396970.2:p.Met488Val
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1462A>G
  hgvsp: ENSP00000351937.2:p.Met488Val
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1462A>G
  hgvsp: ENSP00000464132.1:p.Met488Val
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1462A>G
  hgvsp: ENSP00000440551.2:p.Met488Val
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3619A>G
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9546
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13739
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met488Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-71233084-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233084
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233084
    reference: chr 17
allele count: 5
allele frequency: 4.213435804092089e-5
allele num: 118668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1463T>C
  hgvsp: ENSP00000255557.4:p.Met488Thr
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1463T>C
  hgvsp: ENSP00000396970.2:p.Met488Thr
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1463T>C
  hgvsp: ENSP00000464132.1:p.Met488Thr
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1463T>C
  hgvsp: ENSP00000440551.2:p.Met488Thr
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3620T>C
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1463T>C
  hgvsp: ENSP00000268942.8:p.Met488Thr
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1463T>C
  hgvsp: ENSP00000351937.2:p.Met488Thr
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met488Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/17-71233089-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233089
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233089
    reference: chr 17
allele count: 7
allele frequency: 5.927581885309758e-5
allele num: 118092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1468C>A
  hgvsp: ENSP00000255557.4:p.Gln490Lys
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1468C>A
  hgvsp: ENSP00000440551.2:p.Gln490Lys
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1468C>A
  hgvsp: ENSP00000464132.1:p.Gln490Lys
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1468C>A
  hgvsp: ENSP00000396970.2:p.Gln490Lys
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3625C>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1468C>A
  hgvsp: ENSP00000268942.8:p.Gln490Lys
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1468C>A
  hgvsp: ENSP00000351937.2:p.Gln490Lys
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9401
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14350
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Gln490Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

17-71233091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233091
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233091
    reference: chr 17
allele count: 134
allele frequency: 1.171144400356587e-3
allele num: 114418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1470G>A
  hgvsp: ENST00000426147.2:c.1470G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1470G>A
  hgvsp: ENST00000535032.2:c.1470G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1470G>A
  hgvsp: ENST00000268942.8:c.1470G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1470G>A
  hgvsp: ENST00000255557.4:c.1470G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1470G>A
  hgvsp: ENST00000359042.2:c.1470G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1470G>A
  hgvsp: ENST00000577615.1:c.1470G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3627G>A
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13257
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 9301
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.75e1
  variant carriers: 8
hgvs: p.Gln490Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-71233094-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233094
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233094
    reference: chr 17
allele count: 2
allele frequency: 1.692505585268431e-5
allele num: 118168
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1473G>T
  hgvsp: ENSP00000351937.2:p.Lys491Asn
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1473G>T
  hgvsp: ENSP00000255557.4:p.Lys491Asn
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1473G>T
  hgvsp: ENSP00000464132.1:p.Lys491Asn
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1473G>T
  hgvsp: ENSP00000396970.2:p.Lys491Asn
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1473G>T
  hgvsp: ENSP00000268942.8:p.Lys491Asn
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3630G>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1473G>T
  hgvsp: ENSP00000440551.2:p.Lys491Asn
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14752
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3023
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys491Asn
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-71233095-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233095
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233095
    reference: chr 17
allele count: 2
allele frequency: 1.69445574081605e-5
allele num: 118032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3631C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1474C>T
  hgvsp: ENSP00000268942.8:p.Pro492Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1474C>T
  hgvsp: ENSP00000255557.4:p.Pro492Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1474C>T
  hgvsp: ENSP00000440551.2:p.Pro492Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1474C>T
  hgvsp: ENSP00000464132.1:p.Pro492Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1474C>T
  hgvsp: ENSP00000396970.2:p.Pro492Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1474C>T
  hgvsp: ENSP00000351937.2:p.Pro492Ser
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro492Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

17-71233105-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233105
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233105
    reference: chr 17
allele count: 4
allele frequency: 3.405530581664624e-5
allele num: 117456
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1484T>C
  hgvsp: ENSP00000440551.2:p.Ile495Thr
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3641T>C
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1484T>C
  hgvsp: ENSP00000464132.1:p.Ile495Thr
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1484T>C
  hgvsp: ENSP00000351937.2:p.Ile495Thr
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1484T>C
  hgvsp: ENSP00000396970.2:p.Ile495Thr
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1484T>C
  hgvsp: ENSP00000268942.8:p.Ile495Thr
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1484T>C
  hgvsp: ENSP00000255557.4:p.Ile495Thr
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9212
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile495Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-71233106-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233106
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233106
    reference: chr 17
allele count: 1
allele frequency: 8.525294548926666e-6
allele num: 117298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3642C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1485C>T
  hgvsp: ENST00000577615.1:c.1485C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1485C>T
  hgvsp: ENST00000255557.4:c.1485C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1485C>T
  hgvsp: ENST00000535032.2:c.1485C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1485C>T
  hgvsp: ENST00000268942.8:c.1485C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1485C>T
  hgvsp: ENST00000359042.2:c.1485C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1485C>T
  hgvsp: ENST00000426147.2:c.1485C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile495Ile
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

17-71233108-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233108
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233108
    reference: chr 17
allele count: 2
allele frequency: 1.70712554201236e-5
allele num: 117156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1487G>A
  hgvsp: ENSP00000255557.4:p.Ser496Asn
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1487G>A
  hgvsp: ENSP00000268942.8:p.Ser496Asn
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1487G>A
  hgvsp: ENSP00000440551.2:p.Ser496Asn
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1487G>A
  hgvsp: ENSP00000396970.2:p.Ser496Asn
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1487G>A
  hgvsp: ENSP00000351937.2:p.Ser496Asn
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3644G>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1487G>A
  hgvsp: ENSP00000464132.1:p.Ser496Asn
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7102
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3962
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14735
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser496Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

17-71233112-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233112
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233112
    reference: chr 17
allele count: 79
allele frequency: 6.760573022746333e-4
allele num: 116854
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1491C>G
  hgvsp: ENST00000268942.8:c.1491C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1491C>G
  hgvsp: ENST00000535032.2:c.1491C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1491C>G
  hgvsp: ENST00000426147.2:c.1491C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1491C>G
  hgvsp: ENST00000359042.2:c.1491C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3648C>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1491C>G
  hgvsp: ENST00000577615.1:c.1491C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1491C>G
  hgvsp: ENST00000255557.4:c.1491C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12144
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6086
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro497Pro
num of homozygotes: 1
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

17-71233115-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233115
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233115
    reference: chr 17
allele count: 1
allele frequency: 8.584133088399403e-6
allele num: 116494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1494G>A
  hgvsp: ENST00000426147.2:c.1494G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1494G>A
  hgvsp: ENST00000359042.2:c.1494G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1494G>A
  hgvsp: ENST00000535032.2:c.1494G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1494G>A
  hgvsp: ENST00000268942.8:c.1494G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3651G>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1494G>A
  hgvsp: ENST00000255557.4:c.1494G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1494G>A
  hgvsp: ENST00000577615.1:c.1494G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3893
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln498Gln
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

17-71233116-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233116
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233116
    reference: chr 17
allele count: 7
allele frequency: 6.010647432594882e-5
allele num: 116460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1495G>T
  hgvsp: ENSP00000464132.1:p.Gly499Trp
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1495G>T
  hgvsp: ENSP00000440551.2:p.Gly499Trp
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1495G>T
  hgvsp: ENSP00000268942.8:p.Gly499Trp
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3652G>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1495G>T
  hgvsp: ENSP00000351937.2:p.Gly499Trp
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1495G>T
  hgvsp: ENSP00000396970.2:p.Gly499Trp
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1495G>T
  hgvsp: ENSP00000255557.4:p.Gly499Trp
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8871
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11844
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly499Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

17-71233118-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233118
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233118
    reference: chr 17
allele count: 1104
allele frequency: 9.491548738758878e-3
allele num: 116314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1497G>A
  hgvsp: ENST00000426147.2:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1497G>A
  hgvsp: ENST00000255557.4:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1497G>A
  hgvsp: ENST00000535032.2:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1497G>A
  hgvsp: ENST00000268942.8:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1497G>A
  hgvsp: ENST00000577615.1:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1497G>A
  hgvsp: ENST00000359042.2:c.1497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3654G>A
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 1.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 3.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 8788
  bin: 3.25e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 1.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 6.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 4.25e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 11695
  bin: 2.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 2.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 7.5e0
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 5.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 5.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 4.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 2.25e1
  variant carriers: 2
hgvs: p.Gly499Gly
num of homozygotes: 15
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

17-71233122-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233122
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233122
    reference: chr 17
allele count: 1
allele frequency: 8.655610566769381e-6
allele num: 115532
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1501A>G
  hgvsp: ENSP00000351937.2:p.Arg501Gly
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1501A>G
  hgvsp: ENSP00000440551.2:p.Arg501Gly
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1501A>G
  hgvsp: ENSP00000464132.1:p.Arg501Gly
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3658A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1501A>G
  hgvsp: ENSP00000268942.8:p.Arg501Gly
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1501A>G
  hgvsp: ENSP00000396970.2:p.Arg501Gly
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1501A>G
  hgvsp: ENSP00000255557.4:p.Arg501Gly
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14412
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5786
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg501Gly
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-71233123-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233123
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233123
    reference: chr 17
allele count: 1
allele frequency: 8.657858738376825e-6
allele num: 115502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1502G>T
  hgvsp: ENSP00000464132.1:p.Arg501Ile
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1502G>T
  hgvsp: ENSP00000396970.2:p.Arg501Ile
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1502G>T
  hgvsp: ENSP00000351937.2:p.Arg501Ile
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1502G>T
  hgvsp: ENSP00000440551.2:p.Arg501Ile
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1502G>T
  hgvsp: ENSP00000268942.8:p.Arg501Ile
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3659G>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1502G>T
  hgvsp: ENSP00000255557.4:p.Arg501Ile
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11163
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14411
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg501Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-71233125-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233125
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233125
    reference: chr 17
allele count: 2
allele frequency: 1.738435060758305e-5
allele num: 115046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1504C>T
  hgvsp: ENSP00000464132.1:p.Leu502Phe
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1504C>T
  hgvsp: ENSP00000351937.2:p.Leu502Phe
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1504C>T
  hgvsp: ENSP00000396970.2:p.Leu502Phe
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1504C>T
  hgvsp: ENSP00000255557.4:p.Leu502Phe
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3661C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1504C>T
  hgvsp: ENSP00000440551.2:p.Leu502Phe
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1504C>T
  hgvsp: ENSP00000268942.8:p.Leu502Phe
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14409
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu502Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-71233126-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233126
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233126
    reference: chr 17
allele count: 2
allele frequency: 1.741856819369448e-5
allele num: 114820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1505T>A
  hgvsp: ENSP00000268942.8:p.Leu502His
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1505T>A
  hgvsp: ENSP00000255557.4:p.Leu502His
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1505T>A
  hgvsp: ENSP00000396970.2:p.Leu502His
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3662T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1505T>A
  hgvsp: ENSP00000464132.1:p.Leu502His
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1505T>A
  hgvsp: ENSP00000351937.2:p.Leu502His
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1505T>A
  hgvsp: ENSP00000440551.2:p.Leu502His
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14411
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu502His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

17-71233128-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233128
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233128
    reference: chr 17
allele count: 16
allele frequency: 1.396428633769135e-4
allele num: 114578
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1507T>C
  hgvsp: ENSP00000351937.2:p.Ser503Pro
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1507T>C
  hgvsp: ENSP00000440551.2:p.Ser503Pro
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1507T>C
  hgvsp: ENSP00000255557.4:p.Ser503Pro
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1507T>C
  hgvsp: ENSP00000396970.2:p.Ser503Pro
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1507T>C
  hgvsp: ENSP00000268942.8:p.Ser503Pro
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1507T>C
  hgvsp: ENSP00000464132.1:p.Ser503Pro
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3664T>C
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8296
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser503Pro
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-71233129-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233129
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233129
    reference: chr 17
allele count: 6
allele frequency: 5.266206751277055e-5
allele num: 113934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1508C>T
  hgvsp: ENSP00000396970.2:p.Ser503Leu
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1508C>T
  hgvsp: ENSP00000268942.8:p.Ser503Leu
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1508C>T
  hgvsp: ENSP00000440551.2:p.Ser503Leu
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1508C>T
  hgvsp: ENSP00000464132.1:p.Ser503Leu
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1508C>T
  hgvsp: ENSP00000351937.2:p.Ser503Leu
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1508C>T
  hgvsp: ENSP00000255557.4:p.Ser503Leu
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3665C>T
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10945
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6899
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14410
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser503Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-71233130-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233130
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233130
    reference: chr 17
allele count: 60580
allele frequency: 5.337068752863234e-1
allele num: 113508
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1509A>G
  hgvsp: ENST00000359042.2:c.1509A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1509A>G
  hgvsp: ENST00000426147.2:c.1509A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1509A>G
  hgvsp: ENST00000577615.1:c.1509A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1509A>G
  hgvsp: ENST00000255557.4:c.1509A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3666A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1509A>G
  hgvsp: ENST00000535032.2:c.1509A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1509A>G
  hgvsp: ENST00000268942.8:c.1509A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 3.75e1
  variant carriers: 6492
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 4.25e1
  variant carriers: 5584
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 3.25e1
  variant carriers: 6295
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 6.25e1
  variant carriers: 1243
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 2.5e0
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 7.5e0
  variant carriers: 1260
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 1.25e1
  variant carriers: 2236
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 4.75e1
  variant carriers: 4340
genotype depth: GenotypeDepth
  all individuals: 10951
  bin: 2.75e1
  variant carriers: 5295
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 363
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.75e1
  variant carriers: 809
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 551
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 1.75e1
  variant carriers: 2570
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 2.25e1
  variant carriers: 3537
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 5.25e1
  variant carriers: 2887
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 245
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 5.75e1
  variant carriers: 1828
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.25e1
  variant carriers: 142
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 1.75e1
  variant carriers: 218
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.75e1
  variant carriers: 216
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.5e0
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.75e1
  variant carriers: 615
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 4.75e1
  variant carriers: 503
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 6.75e1
  variant carriers: 684
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 9.25e1
  variant carriers: 978
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 8.25e1
  variant carriers: 931
hgvs: p.Ser503Ser
num of homozygotes: 15972
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-71233131-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233131
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233132
    reference: chr 17
allele count: 3
allele frequency: 2.804262478968031e-5
allele num: 106980
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1512dupA
  hgvsp: ENSP00000464132.1:p.Gly505ArgfsTer30
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1512dupA
  hgvsp: ENSP00000255557.4:p.Gly505ArgfsTer30
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1512dupA
  hgvsp: ENSP00000396970.2:p.Val505SerfsTer66
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1512dupA
  hgvsp: ENSP00000440551.2:p.Val505SerfsTer66
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1512dupA
  hgvsp: ENSP00000268942.8:p.Gly505ArgfsTer30
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3669dupA
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1512dupA
  hgvsp: ENSP00000351937.2:p.Val505SerfsTer66
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25346
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Val505SerfsTer66
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

17-71233134-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233134
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233134
    reference: chr 17
allele count: 1
allele frequency: 9.345619708042841e-6
allele num: 107002
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1513G>A
  hgvsp: ENSP00000351937.2:p.Val505Ile
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1513G>A
  hgvsp: ENSP00000464132.1:p.Gly505Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1513G>A
  hgvsp: ENSP00000268942.8:p.Gly505Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1513G>A
  hgvsp: ENSP00000440551.2:p.Val505Ile
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1513G>A
  hgvsp: ENSP00000396970.2:p.Val505Ile
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1513G>A
  hgvsp: ENSP00000255557.4:p.Gly505Ser
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3670G>A
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33919
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val505Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

17-71233136-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233136
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233135
    reference: chr 17
allele count: 1
allele frequency: 9.45769572701307e-6
allele num: 105734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1513+5delA
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1513+5delA
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1513+5delA
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1513+5delA
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3675delA
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1513+5delA
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1513+5delA
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10644
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9633
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6075
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1513+5delA
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: TA
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

17-71233150-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233150
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233150
    reference: chr 17
allele count: 1
allele frequency: 9.77497996129108e-6
allele num: 102302
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1513+16T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1513+16T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1513+16T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1513+16T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1513+16T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1513+16T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3686T>G
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-71233151-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233151
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233151
    reference: chr 17
allele count: 1
allele frequency: 9.842132199519704e-6
allele num: 101604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1513+17T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1513+17T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1513+17T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3687T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1513+17T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1513+17T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1513+17T>G
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 540
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genotype quality: GenotypeQuality
  all individuals: 13254
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genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22156
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS

17-71233155-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233155
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233155
    reference: chr 17
allele count: 1
allele frequency: 9.909427829637117e-6
allele num: 100914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1513+21T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3691T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1513+21T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1513+21T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1513+21T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1513+21T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1513+21T>A
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 681
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2781
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

17-71233158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233158
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233158
    reference: chr 17
allele count: 1
allele frequency: 1.007353681877707e-5
allele num: 99270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3694C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1513+24C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1513+24C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1513+24C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1513+24C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1513+24C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1513+24C>T
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14069
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6042
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3499
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-71233162-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233162
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233162
    reference: chr 17
allele count: 3
allele frequency: 3.034717164360282e-5
allele num: 98856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1513+28C>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1513+28C>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1513+28C>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3698C>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1513+28C>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1513+28C>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1513+28C>G
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8178
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/17-71233167-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233167
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233167
    reference: chr 17
allele count: 4
allele frequency: 4.089226931648572e-5
allele num: 97818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1513+33C>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3703C>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1513+33C>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1513+33C>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1513+33C>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1513+33C>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1513+33C>A
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9682
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4647
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14699
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-71233172-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233172
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233171
    reference: chr 17
allele count: 1
allele frequency: 1.037258318811717e-5
allele num: 96408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1513+42delA
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1513+42delA
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1513+42delA
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3712delA
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1513+42delA
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1513+42delA
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1513+42delA
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4959
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: CA
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

17-71233176-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233176
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233176
    reference: chr 17
allele count: 2
allele frequency: 2.088554720133668e-5
allele num: 95760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1513+42A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3712A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1513+42A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1513+42A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1513+42A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1513+42A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1513+42A>G
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16702
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15226
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5082
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7906
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-71233178-GCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233178
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233176
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 93862
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1513+51_1513+52delCT
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3721_-81+3722delCT
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1513+51_1513+52delCT
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1513+51_1513+52delCT
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1513+51_1513+52delCT
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1513+51_1513+52delCT
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1513+51_1513+52delCT
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8786
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8001
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4390
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: GCT
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-71233181-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233181
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233181
    reference: chr 17
allele count: 1
allele frequency: 1.076217740373232e-5
allele num: 92918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1513+47C>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1513+47C>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1513+47C>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3717C>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1513+47C>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1513+47C>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1513+47C>G
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15995
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9102
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8011
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6814
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5017
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-71233182-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71233182
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71233182
    reference: chr 17
allele count: 1
allele frequency: 1.090250975774623e-5
allele num: 91722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1513+48T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1513+48T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1513+48T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-81+3718T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1513+48T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1513+48T>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1513+48T>G
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14931
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8037
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4336
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

17-71238335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71238335
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71238335
    reference: chr 17
allele count: 2
allele frequency: 1.667278001934042e-5
allele num: 119956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-80-48G>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1514-700G>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1514-48G>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1514-48G>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1514-48G>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1514-700G>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1514-700G>A
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

17-71238338-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71238338
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71238338
    reference: chr 17
allele count: 1
allele frequency: 8.337919188887221e-6
allele num: 119934
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1514-45T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1514-45T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-80-45T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1514-45T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1514-697T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1514-697T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1514-697T>A
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

17-71238340-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71238340
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71238340
    reference: chr 17
allele count: 5
allele frequency: 4.170211346311031e-5
allele num: 119898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1514-695C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1514-43C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1514-43C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-80-43C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1514-695C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1514-43C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1514-695C>T
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1885
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

17-71238341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71238341
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71238341
    reference: chr 17
allele count: 4
allele frequency: 3.332944489809522e-5
allele num: 120014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1514-42G>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1514-694G>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1514-694G>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1514-42G>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1514-42G>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-80-42G>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1514-694G>A
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-71238344-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71238344
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71238344
    reference: chr 17
allele count: 2
allele frequency: 1.665722757104307e-5
allele num: 120068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1514-691T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1514-691T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-80-39T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1514-691T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1514-39T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1514-39T>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1514-39T>A
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-71238345-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71238345
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71238345
    reference: chr 17
allele count: 2
allele frequency: 1.666583337499792e-5
allele num: 120006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1514-690C>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1514-690C>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-80-38C>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1514-38C>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1514-38C>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1514-38C>A
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1514-690C>A
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3894
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

17-71238345-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71238345
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71238345
    reference: chr 17
allele count: 2
allele frequency: 1.666583337499792e-5
allele num: 120006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-80-38C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1514-690C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1514-38C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1514-38C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1514-690C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1514-38C>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1514-690C>T
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

17-71238346-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71238346
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71238346
    reference: chr 17
allele count: 1
allele frequency: 8.327781479013991e-6
allele num: 120080
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1514-37G>C
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1514-689G>C
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-80-37G>C
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1514-37G>C
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1514-689G>C
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1514-37G>C
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1514-689G>C
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

17-71238346-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71238346
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71238346
    reference: chr 17
allele count: 1
allele frequency: 8.327781479013991e-6
allele num: 120080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1514-37G>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-80-37G>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1514-689G>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1514-689G>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1514-37G>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1514-37G>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1514-689G>T
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-71238354-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71238354
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71238354
    reference: chr 17
allele count: 2
allele frequency: 1.663699735471742e-5
allele num: 120214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-80-29A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1514-29A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1514-29A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1514-29A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1514-681A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1514-681A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1514-681A>G
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

17-71238359-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71238359
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71238359
    reference: chr 17
allele count: 1
allele frequency: 8.311999202048076e-6
allele num: 120308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1514-24A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1514-24A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1514-676A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1514-24A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-80-24A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1514-676A>G
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1514-676A>G
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5182
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

17-71238362-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71238362
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71238362
    reference: chr 17
allele count: 1
allele frequency: 8.307855908547122e-6
allele num: 120368
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1514-21G>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-80-21G>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1514-673G>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1514-673G>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1514-21G>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1514-21G>T
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1514-673G>T
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43069
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-71238380-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71238380
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 71238380
    reference: chr 17
allele count: 7
allele frequency: 5.802772067113204e-5
allele num: 120632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000268942
  ensembl transcript: ENST00000268942
  gene symbol: C17orf80
  hgvsc: ENST00000268942.8:c.1514-655T>C
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000351937
  ensembl transcript: ENST00000359042
  gene symbol: C17orf80
  hgvsc: ENST00000359042.2:c.1514-3T>C
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000396970
  ensembl transcript: ENST00000426147
  gene symbol: C17orf80
  hgvsc: ENST00000426147.2:c.1514-3T>C
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000464132
  ensembl transcript: ENST00000577615
  gene symbol: C17orf80
  hgvsc: ENST00000577615.1:c.1514-655T>C
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000463718
  ensembl transcript: ENST00000582793
  gene symbol: C17orf80
  hgvsc: ENST00000582793.1:c.-80-3T>C
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000255557
  ensembl transcript: ENST00000255557
  gene symbol: C17orf80
  hgvsc: ENST00000255557.4:c.1514-655T>C
  variant of: http://identifiers.org/hgnc/29601
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141219
  ensembl protein: ENSP00000440551
  ensembl transcript: ENST00000535032
  gene symbol: C17orf80
  hgvsc: ENST00000535032.2:c.1514-3T>C
  variant of: http://identifiers.org/hgnc/29601
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1514-3T>C
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 3047
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7183
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4334
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17079
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.383e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.93e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.19e0

VQSLOD
type: SiteQuality
SIO_000300: -1.514e0

DP
type: SiteQuality
SIO_000300: 2.333128e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 19997
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3754
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7179
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3045
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 82
bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.473e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 2.332843e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.787e1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e-1

FS
type: SiteQuality
SIO_000300: 7.98e-1

GenotypeQuality
all individuals: 3042
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3751
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19880
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17075
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.92e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.897e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.997e0

DP
type: SiteQuality
SIO_000300: 2.33248e6

FS
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.76e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.106e1

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3753
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17072
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4317
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.77e-1

DP
type: SiteQuality
SIO_000300: 2.332351e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

QD
type: SiteQuality
SIO_000300: 1.699e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.76e-2

FS
type: SiteQuality
SIO_000300: 3.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

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

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17071
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3107
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4314
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1892
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
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: 16486
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.08e-2

QD
type: SiteQuality
SIO_000300: 7.6e0

FS
type: SiteQuality
SIO_000300: 9.039999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

DP
type: SiteQuality
SIO_000300: 2.331956e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

VQSLOD
type: SiteQuality
SIO_000300: -1.598e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17069
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1892
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4313
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3753
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7147
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3034
bin: 7.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: -1.743e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.65e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e0

QD
type: SiteQuality
SIO_000300: 1.182e1

DP
type: SiteQuality
SIO_000300: 2.331878e6

FS
type: SiteQuality
SIO_000300: 4.061e0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3029
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7150
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4312
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17069
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1892
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3106
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 8654
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
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: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -3.109e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

MQRankSum
type: SiteQuality
SIO_000300: -1.282e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.73e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

DP
type: SiteQuality
SIO_000300: 2.331727e6

GenotypeQuality
all individuals: 18008
bin: 9.75e1
variant carriers: 4259

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4161
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2934
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1777
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3634
bin: 8.25e1
variant carriers: 3

Latino
type: Population
allele count: 230
allele frequency: 1.987212718161396e-2
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South Asian
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allele frequency: 4.777804759592035e-2
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African
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allele frequency: 7.988450433108758e-3
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European (Non-Finnish)
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allele frequency: 4.606643880793908e-2
allele num: 66708
num of homozygotes: 81

Other
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allele frequency: 3.311258278145696e-2
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European (Finnish)
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allele frequency: 2.661022074387662e-2
allele num: 6614
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East Asian
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QD
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FS
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DP
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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East Asian
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VQSLOD
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ClippingRankSum
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FS
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MQ
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ReadPosRankSum
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DP
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QD
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BaseQRankSum
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MQRankSum
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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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African
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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Latino
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MQ
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BaseQRankSum
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DP
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QD
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Latino
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African
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East Asian
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allele num: 8652
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Other
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European (Non-Finnish)
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allele frequency: 4.49707690001499e-5
allele num: 66710
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FS
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: -5.03e-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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East Asian
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South Asian
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Latino
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African
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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DP
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BaseQRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16450
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European (Finnish)
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Other
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East Asian
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Latino
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African
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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ClippingRankSum
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FS
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MQ
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DP
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QD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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East Asian
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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DP
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FS
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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African
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European (Finnish)
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Other
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ReadPosRankSum
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MQ
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QD
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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East Asian
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European (Finnish)
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Latino
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InbreedingCoeff
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MQ
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ReadPosRankSum
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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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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African
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South Asian
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Latino
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European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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DP
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MQ
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SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 3.417e0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

QD
type: SiteQuality
SIO_000300: 1.144e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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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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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14457
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.599e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

FS
type: SiteQuality
SIO_000300: 9.412000000000001e0

DP
type: SiteQuality
SIO_000300: 2.222706e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.944e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.910385465259023e-4
allele num: 16292
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

DP
type: SiteQuality
SIO_000300: 2.222142e6

FS
type: SiteQuality
SIO_000300: 1.103e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3776
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
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: 11570
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.251e1

DP
type: SiteQuality
SIO_000300: 2.220625e6

FS
type: SiteQuality
SIO_000300: 1.147e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.089e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3022
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GenotypeQuality
all individuals: 85
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004266057802079e-5
allele num: 66572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 2.21746e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.072e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.181e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.86e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1867
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.21746e6

FS
type: SiteQuality
SIO_000300: 6.072e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.86e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.94431185361973e-5
allele num: 10056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.246e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.213657e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503488092374308e-5
allele num: 66512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.16e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.243e0

QD
type: SiteQuality
SIO_000300: 1.232e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.218132073125233e-5
allele num: 16082
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: 66482
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 896
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0016e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.208057e6

QD
type: SiteQuality
SIO_000300: 7.53e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515289268721399e-5
allele num: 65994
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.245213742460005e-4
allele num: 15252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.15024e6

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1203e1

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.954e-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
all individuals: 493
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14385
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15256
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.577364895583912e-5
allele num: 65986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

MQ
type: SiteQuality
SIO_000300: 5.92e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.428e-1

FS
type: SiteQuality
SIO_000300: 2.519e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 9.48e0

MQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

DP
type: SiteQuality
SIO_000300: 2.149775e6

GenotypeQuality
all individuals: 553
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 5.25e1
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GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 285
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2999
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 117
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4098
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2746
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2827
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.026061974143238e-4
allele num: 9746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.123532631835046e-5
allele num: 65764
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.128e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 7.5506e1

DP
type: SiteQuality
SIO_000300: 2.140135e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

QD
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: -2.66e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.08e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

GenotypeQuality
all individuals: 6098
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 314
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 739
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 780
bin: 2.75e1
variant carriers: 13

GenotypeQuality
all individuals: 398
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 293
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 2588
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 17625
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 332
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 13776
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 3864
bin: 7.75e1
variant carriers: 6

European (Finnish)
type: Population
allele count: 22
allele frequency: 3.631561571475735e-3
allele num: 6058
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 2.331261101243339e-3
allele num: 9008
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15038
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.624212736179146e-4
allele num: 11432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 83
allele frequency: 1.305811648469211e-3
allele num: 63562
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.883737349964697e-4
allele num: 8498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4608e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.36e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.049e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

DP
type: SiteQuality
SIO_000300: 2.157831e6

VQSLOD
type: SiteQuality
SIO_000300: -1.024e2

QD
type: SiteQuality
SIO_000300: 8.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

GenotypeQuality
all individuals: 6525
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4050
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3648
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variant carriers: 0

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

GenotypeQuality
all individuals: 384
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variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2713
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2993
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.735809755250825e-4
allele num: 11522
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65822
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.155818e6

MQRankSum
type: SiteQuality
SIO_000300: 8.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

FS
type: SiteQuality
SIO_000300: 5.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.708e0

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.429e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 122
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2992
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3644
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14750
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6495
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65788
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.736412571627018e-4
allele num: 11518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
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: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14870
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.583e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.329e0

DP
type: SiteQuality
SIO_000300: 2.154254e6

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.405e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 962
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
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variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3992
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14745
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 163
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1796
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523461304082876e-5
allele num: 65640
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.87757909215956e-5
allele num: 14540
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.133273e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.492e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e-1

QD
type: SiteQuality
SIO_000300: 2.214e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.91e-1

GenotypeQuality
all individuals: 2625
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3978
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
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variant carriers: 0

GenotypeQuality
all individuals: 3663
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14740
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3616
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6221
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524436720631727e-5
allele num: 65598
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.493e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

DP
type: SiteQuality
SIO_000300: 2.131347e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.087e0

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

FS
type: SiteQuality
SIO_000300: 3.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.858e1

GenotypeQuality
all individuals: 650
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 7.5e0
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GenotypeQuality
all individuals: 928
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 44
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GenotypeQuality
all individuals: 275
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GenotypeQuality
all individuals: 260
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GenotypeQuality
all individuals: 3720
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variant carriers: 0

GenotypeQuality
all individuals: 285
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GenotypeQuality
all individuals: 2611
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1793
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.050268423621279e-5
allele num: 65568
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 2.125161e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

FS
type: SiteQuality
SIO_000300: 1.024e0

QD
type: SiteQuality
SIO_000300: 8.25e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.663e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

GenotypeQuality
all individuals: 2576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2972
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
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GenotypeQuality
all individuals: 14771
bin: 9.75e1
variant carriers: 78

GenotypeQuality
all individuals: 240
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3928
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variant carriers: 0

GenotypeQuality
all individuals: 3593
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
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variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.35464204842362e-4
allele num: 11482
num of homozygotes: 0

African
type: Population
allele count: 66
allele frequency: 6.801319043693323e-3
allele num: 9704
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.221821736208687e-4
allele num: 65476
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

FS
type: SiteQuality
SIO_000300: 1.199e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.413e1

DP
type: SiteQuality
SIO_000300: 2.118821e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

GenotypeQuality
all individuals: 3887
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 7.5e0
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GenotypeQuality
all individuals: 194
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GenotypeQuality
all individuals: 164
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2547
bin: 7.25e1
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GenotypeQuality
all individuals: 350
bin: 4.25e1
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GenotypeQuality
all individuals: 14698
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variant carriers: 1

GenotypeQuality
all individuals: 2972
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6008
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65362
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13958
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 2.111925e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.134e-1

FS
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 2.328e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.904e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

GenotypeQuality
all individuals: 253
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14695
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 172
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 367
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2971
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3583
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5998
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.070925891928279e-4
allele num: 65364
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

FS
type: SiteQuality
SIO_000300: 1.169e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 2.110208e6

VQSLOD
type: SiteQuality
SIO_000300: -2.491e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

GenotypeQuality
all individuals: 163
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 182
bin: 1.25e1
variant carriers: 5

GenotypeQuality
all individuals: 3800
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 15811
bin: 6.25e1
variant carriers: 3

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5920
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 395
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2915
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 15330
bin: 9.75e1
variant carriers: 1082

GenotypeQuality
all individuals: 1746
bin: 8.75e1
variant carriers: 6

European (Finnish)
type: Population
allele count: 37
allele frequency: 5.614567526555387e-3
allele num: 6590
num of homozygotes: 0

Latino
type: Population
allele count: 38
allele frequency: 3.311835454070071e-3
allele num: 11474
num of homozygotes: 1

Other
type: Population
allele count: 10
allele frequency: 1.168224299065421e-2
allele num: 856
num of homozygotes: 0

South Asian
type: Population
allele count: 231
allele frequency: 1.666666666666667e-2
allele num: 13860
num of homozygotes: 5

European (Non-Finnish)
type: Population
allele count: 764
allele frequency: 1.16973390084821e-2
allele num: 65314
num of homozygotes: 8

African
type: Population
allele count: 24
allele frequency: 2.480876576390325e-3
allele num: 9674
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.423e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 6.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.107702e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

GenotypeQuality
all individuals: 330
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3808
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3819
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3523
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2944
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14556
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537515375153751e-5
allele num: 65040
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e0

DP
type: SiteQuality
SIO_000300: 2.085228e6

VQSLOD
type: SiteQuality
SIO_000300: -1.365e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.855e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.395e0

FS
type: SiteQuality
SIO_000300: 1.392e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

GenotypeQuality
all individuals: 476
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3809
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variant carriers: 0

GenotypeQuality
all individuals: 779
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variant carriers: 0

GenotypeQuality
all individuals: 158
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variant carriers: 0

GenotypeQuality
all individuals: 1461
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variant carriers: 0

GenotypeQuality
all individuals: 14749
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variant carriers: 0

GenotypeQuality
all individuals: 5777
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variant carriers: 0

GenotypeQuality
all individuals: 3521
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2944
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65020
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.518372304889159e-4
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.021e0

VQSLOD
type: SiteQuality
SIO_000300: -8.621e-1

QD
type: SiteQuality
SIO_000300: 6.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 2.084956e6

MQ
type: SiteQuality
SIO_000300: 5.914e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.289e0

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.414e0

GenotypeQuality
all individuals: 782
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
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variant carriers: 0

GenotypeQuality
all individuals: 448
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variant carriers: 0

GenotypeQuality
all individuals: 230
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variant carriers: 0

GenotypeQuality
all individuals: 5670
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2942
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13854
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.082614056720099e-5
allele num: 64880
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.699e0

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.286e0

QD
type: SiteQuality
SIO_000300: 1.556e1

DP
type: SiteQuality
SIO_000300: 2.080845e6

GenotypeQuality
all individuals: 2446
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5585
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variant carriers: 0

GenotypeQuality
all individuals: 3591
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2940
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
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variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3783
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13052
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.758101243650377e-5
allele num: 11418
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.209e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.077622e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

GenotypeQuality
all individuals: 798
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3508
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2938
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14413
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 12910
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3773
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.75377060680463e-4
allele num: 11404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12934
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.409443269908386e-3
allele num: 8514
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.089375637183725e-5
allele num: 64738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.359e1

FS
type: SiteQuality
SIO_000300: 6.820000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

VQSLOD
type: SiteQuality
SIO_000300: 4.12e0

DP
type: SiteQuality
SIO_000300: 2.075736e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

GenotypeQuality
all individuals: 3491
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.5e0
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GenotypeQuality
all individuals: 1218
bin: 5.75e1
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GenotypeQuality
all individuals: 11250
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1776
bin: 4.75e1
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GenotypeQuality
all individuals: 1526
bin: 3.25e1
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GenotypeQuality
all individuals: 427
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2177
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5141
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.295984134853743e-5
allele num: 64544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.332e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.311e0

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.214e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.073522e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

GenotypeQuality
all individuals: 418
bin: 4.25e1
variant carriers: 305

GenotypeQuality
all individuals: 448
bin: 2.5e0
variant carriers: 51

GenotypeQuality
all individuals: 37661
bin: 9.75e1
variant carriers: 37444

GenotypeQuality
all individuals: 786
bin: 5.25e1
variant carriers: 552

GenotypeQuality
all individuals: 802
bin: 7.25e1
variant carriers: 480

GenotypeQuality
all individuals: 613
bin: 5.75e1
variant carriers: 347

GenotypeQuality
all individuals: 664
bin: 3.25e1
variant carriers: 376

GenotypeQuality
all individuals: 7737
bin: 6.25e1
variant carriers: 580

GenotypeQuality
all individuals: 1271
bin: 7.75e1
variant carriers: 923

GenotypeQuality
all individuals: 2121
bin: 2.25e1
variant carriers: 312

GenotypeQuality
all individuals: 617
bin: 3.75e1
variant carriers: 468

Latino
type: Population
allele count: 6178
allele frequency: 5.475008862105636e-1
allele num: 11284
num of homozygotes: 1669

Other
type: Population
allele count: 447
allele frequency: 5.334128878281623e-1
allele num: 838
num of homozygotes: 108

South Asian
type: Population
allele count: 5994
allele frequency: 4.724893583477849e-1
allele num: 12686
num of homozygotes: 1362

European (Non-Finnish)
type: Population
allele count: 34640
allele frequency: 5.390768464626973e-1
allele num: 64258
num of homozygotes: 9208

African
type: Population
allele count: 4787
allele frequency: 5.035766884073217e-1
allele num: 9506
num of homozygotes: 1202

European (Finnish)
type: Population
allele count: 3256
allele frequency: 4.984690753214942e-1
allele num: 6532
num of homozygotes: 795

East Asian
type: Population
allele count: 5278
allele frequency: 6.28034269395526e-1
allele num: 8404
num of homozygotes: 1628

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

DP
type: SiteQuality
SIO_000300: 2.044014e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

FS
type: SiteQuality
SIO_000300: 1.422e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10430
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.871236969441107e-5
allele num: 61586
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.99e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -2.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.47e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

DP
type: SiteQuality
SIO_000300: 1.405451e6

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10822
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61568
num of homozygotes: 0

Other
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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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African
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allele frequency: 1.114827201783724e-4
allele num: 8970
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.929e1

ReadPosRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.019e0

VQSLOD
type: SiteQuality
SIO_000300: -2.1e0

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

Other
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allele count: 1
allele frequency: 1.305483028720627e-3
allele num: 766
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10712
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61030
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.3646e6

QD
type: SiteQuality
SIO_000300: 1.115e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.047e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.682595234890295e-5
allele num: 59432
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 1.223774e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.325e0

QD
type: SiteQuality
SIO_000300: 1.623e1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.297016861219196e-4
allele num: 7710
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8924
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.68e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.701085292416562e-5
allele num: 58786
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.34e-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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bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7540
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.724613686534216e-5
allele num: 57984
num of homozygotes: 0

ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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DP
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BaseQRankSum
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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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bin: 4.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.005340453938585e-4
allele num: 7490
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57782
num of homozygotes: 0

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

East Asian
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allele frequency: 1.351716680183834e-4
allele num: 7398
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

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: 3
allele frequency: 5.239076525444448e-5
allele num: 57262
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.770224818551956e-5
allele num: 56490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7298
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.055e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.041e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

DP
type: SiteQuality
SIO_000300: 9.98356e5

GenotypeQuality
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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7246
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.497502497502498e-4
allele num: 8008
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56092
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.253e1

DP
type: SiteQuality
SIO_000300: 9.75629e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7138
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9518
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54968
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.728e1

DP
type: SiteQuality
SIO_000300: 9.60235e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.512e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7696
num of homozygotes: 0

Latino
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allele frequency: 1.062699256110521e-4
allele num: 9410
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7068
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54384
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 9.5427e5

QD
type: SiteQuality
SIO_000300: 1.539e1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.427755568246716e-4
allele num: 7004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

African
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: 7510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6042
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.7e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

DP
type: SiteQuality
SIO_000300: 9.4948e5

VQSLOD
type: SiteQuality
SIO_000300: -1.206e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66322
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15556
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31696014828545e-4
allele num: 8632
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.074396e6

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.778e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508159140952553e-5
allele num: 66306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
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: 15548
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.85e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.076309e6

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

QD
type: SiteQuality
SIO_000300: 1.362e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.035e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508568670045861e-5
allele num: 66288
num of homozygotes: 0

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

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

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

East Asian
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allele count: 3
allele frequency: 3.475440222428174e-4
allele num: 8632
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.44080896560608e-5
allele num: 15526
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.325e1

DP
type: SiteQuality
SIO_000300: 3.078587e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 4

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

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

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

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

African
type: Population
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allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.522840343735866e-5
allele num: 66330
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15598
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.53e-1

DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.86e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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VQSLOD
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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
allele num: 6612
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66334
num of homozygotes: 0

South Asian
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allele frequency: 1.278935925310142e-4
allele num: 15638
num of homozygotes: 0

East Asian
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Other
type: Population
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allele frequency: 0.0e0
allele num: 900
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.015499668295036e-5
allele num: 66324
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.05e1

MQ
type: SiteQuality
SIO_000300: 5.912e1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

FS
type: SiteQuality
SIO_000300: 3.262e0

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.746e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 3.084552e6

GenotypeQuality
all individuals: 710
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3894
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507749834147518e-5
allele num: 66324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15588
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

MQ
type: SiteQuality
SIO_000300: 5.912e1

DP
type: SiteQuality
SIO_000300: 3.084552e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.6e-2

FS
type: SiteQuality
SIO_000300: 3.262e0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.746e0

QD
type: SiteQuality
SIO_000300: 1.05e1

GenotypeQuality
all individuals: 2189
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1380
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43023
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.162e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.228e1

DP
type: SiteQuality
SIO_000300: 3.086262e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

GenotypeQuality
all individuals: 691
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1380
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43023
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66332
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.390593047034765e-5
allele num: 15648
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.162e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

DP
type: SiteQuality
SIO_000300: 3.086262e6

QD
type: SiteQuality
SIO_000300: 1.228e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

GenotypeQuality
all individuals: 43065
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4906
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.362942224484602e-5
allele num: 15716
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66388
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.66e1

FS
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.19e0

DP
type: SiteQuality
SIO_000300: 3.095597e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 401
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variant carriers: 0

GenotypeQuality
all individuals: 2209
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variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43068
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 283
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1906
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66414
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15774
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.453e0

VQSLOD
type: SiteQuality
SIO_000300: -4.294e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.64e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.296e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: -1.573e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

DP
type: SiteQuality
SIO_000300: 3.099726e6

GenotypeQuality
all individuals: 1399
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
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GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 1916
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variant carriers: 0

GenotypeQuality
all individuals: 265
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variant carriers: 0

GenotypeQuality
all individuals: 1891
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variant carriers: 0

GenotypeQuality
all individuals: 2212
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variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15804
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.502e0

DP
type: SiteQuality
SIO_000300: 3.102021e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.039e0