9-35811336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811336
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811336
    reference: chr 9
allele count: 76
allele frequency: 6.290974107674988e-4
allele num: 120808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.707C>T
  hgvsp: ENSP00000379878.2:p.Pro236Leu
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.707C>T
  hgvsp: ENSP00000340982.2:p.Pro236Leu
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.700C>T
  hgvsp: ENSP00000417462.1:p.Pro234Leu
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000479751
  gene symbol: SPAG8
  hgvsc: ENST00000479751.1:n.78C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.123-282C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.290-282C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.707C>T
  hgvsp: ENSP00000418530.1:p.Pro236Leu
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.123-282C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.131-282C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.701C>T
  hgvsp: ENSP00000418072.1:p.Pro234Leu
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.75e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro236Leu
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

9-35811337-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811337
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811337
    reference: chr 9
allele count: 3
allele frequency: 2.483197033407277e-5
allele num: 120812
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.706C>T
  hgvsp: ENSP00000340982.2:p.Pro236Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.699C>T
  hgvsp: ENSP00000417462.1:p.Pro234Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.706C>T
  hgvsp: ENSP00000379878.2:p.Pro236Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.131-283C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.706C>T
  hgvsp: ENSP00000418530.1:p.Pro236Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000479751
  gene symbol: SPAG8
  hgvsc: ENST00000479751.1:n.77C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.290-283C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.700C>T
  hgvsp: ENSP00000418072.1:p.Pro234Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.123-283C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.123-283C>T
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro236Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-35811344-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811344
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811344
    reference: chr 9
allele count: 1
allele frequency: 8.276501357346223e-6
allele num: 120824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.123-290G>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.123-290G>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000479751
  gene symbol: SPAG8
  hgvsc: ENST00000479751.1:n.70G>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.692G>C
  hgvsp: ENSP00000417462.1:p.Gln231His
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.699G>C
  hgvsp: ENSP00000379878.2:p.Gln233His
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.699G>C
  hgvsp: ENSP00000340982.2:p.Gln233His
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.699G>C
  hgvsp: ENSP00000418530.1:p.Gln233His
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.131-290G>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.290-290G>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.693G>C
  hgvsp: ENSP00000418072.1:p.Gln231His
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln233His
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

9-35811373-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811373
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811373
    reference: chr 9
allele count: 1
allele frequency: 8.266375690242371e-6
allele num: 120972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.123-319C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.123-319C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.670C>T
  hgvsp: ENSP00000379878.2:p.Arg224Trp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.663C>T
  hgvsp: ENSP00000417462.1:p.Arg222Trp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000479751
  gene symbol: SPAG8
  hgvsc: ENST00000479751.1:n.41C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.670C>T
  hgvsp: ENSP00000418530.1:p.Arg224Trp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.670C>T
  hgvsp: ENSP00000340982.2:p.Arg224Trp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.290-319C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.131-319C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.664C>T
  hgvsp: ENSP00000418072.1:p.Arg222Trp
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg224Trp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

9-35811376-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811376
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811376
    reference: chr 9
allele count: 5
allele frequency: 4.132436319156322e-5
allele num: 120994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.667G>A
  hgvsp: ENSP00000418530.1:p.Asp223Asn
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000479751
  gene symbol: SPAG8
  hgvsc: ENST00000479751.1:n.38G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.660G>A
  hgvsp: ENSP00000417462.1:p.Asp221Asn
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.667G>A
  hgvsp: ENSP00000379878.2:p.Asp223Asn
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.661G>A
  hgvsp: ENSP00000418072.1:p.Asp221Asn
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.290-322G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.667G>A
  hgvsp: ENSP00000340982.2:p.Asp223Asn
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.123-322G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.123-322G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.131-322G>A
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp223Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

9-35811381-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811381
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811381
    reference: chr 9
allele count: 2
allele frequency: 1.652728655009421e-5
allele num: 121012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.123-327T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000479751
  gene symbol: SPAG8
  hgvsc: ENST00000479751.1:n.33T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.662T>C
  hgvsp: ENSP00000379878.2:p.Val221Ala
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.131-327T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.662T>C
  hgvsp: ENSP00000340982.2:p.Val221Ala
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.656T>C
  hgvsp: ENSP00000418072.1:p.Val219Ala
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.655T>C
  hgvsp: ENSP00000417462.1:p.Val219Ala
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.662T>C
  hgvsp: ENSP00000418530.1:p.Val221Ala
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.123-327T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.290-327T>C
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val221Ala
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: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

9-35811394-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811394
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811394
    reference: chr 9
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.131-340T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.642T>C
  hgvsp: ENSP00000417462.1:p.Phe215Leu
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.649T>C
  hgvsp: ENSP00000418530.1:p.Phe217Leu
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.649T>C
  hgvsp: ENSP00000379878.2:p.Phe217Leu
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.123-340T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.649T>C
  hgvsp: ENSP00000340982.2:p.Phe217Leu
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.123-340T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.643T>C
  hgvsp: ENSP00000418072.1:p.Phe215Leu
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.290-340T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000479751
  gene symbol: SPAG8
  hgvsc: ENST00000479751.1:n.20T>C
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3976
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe217Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

9-35811406-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811406
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811406
    reference: chr 9
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.637A>G
  hgvsp: ENSP00000418530.1:p.Ile213Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.131-352A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.123-352A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000479751
  gene symbol: SPAG8
  hgvsc: ENST00000479751.1:n.8A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.637A>G
  hgvsp: ENSP00000340982.2:p.Ile213Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.637A>G
  hgvsp: ENSP00000379878.2:p.Ile213Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.631A>G
  hgvsp: ENSP00000418072.1:p.Ile211Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.123-352A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.630A>G
  hgvsp: ENSP00000417462.1:p.Ile211Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+348A>G
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile213Val
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

9-35811418-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811418
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811418
    reference: chr 9
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.619C>T
  hgvsp: ENSP00000418072.1:p.Leu207Phe
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.625C>T
  hgvsp: ENSP00000418530.1:p.Leu209Phe
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.123-364C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.131-364C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+336C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.123-364C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.625C>T
  hgvsp: ENSP00000379878.2:p.Leu209Phe
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.625C>T
  hgvsp: ENSP00000340982.2:p.Leu209Phe
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.618C>T
  hgvsp: ENSP00000417462.1:p.Leu207Phe
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9114
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu209Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

9-35811434-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811434
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811434
    reference: chr 9
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.609T>C
  hgvsp: ENST00000340291.2:c.609T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.602T>C
  hgvsp: ENST00000497810.1:c.602T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+320T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.609T>C
  hgvsp: ENST00000396638.2:c.609T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.609T>C
  hgvsp: ENST00000475644.1:c.609T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.603T>C
  hgvsp: ENST00000484764.1:c.603T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.123-380T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.123-380T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.131-380T>C
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr203Thr
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: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

9-35811445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811445
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811445
    reference: chr 9
allele count: 415
allele frequency: 3.427033097707604e-3
allele num: 121096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+309G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.123-391G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.592G>A
  hgvsp: ENSP00000418072.1:p.Gly198Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.598G>A
  hgvsp: ENSP00000418530.1:p.Gly200Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.598G>A
  hgvsp: ENSP00000340982.2:p.Gly200Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.131-391G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.591G>A
  hgvsp: ENSP00000417462.1:p.Gly198Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.123-391G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.598G>A
  hgvsp: ENSP00000379878.2:p.Gly200Ser
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 7280
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 12864
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16842
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly200Ser
num of homozygotes: 8
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

9-35811450-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811450
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811450
    reference: chr 9
allele count: 3
allele frequency: 2.478110028085247e-5
allele num: 121060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.593G>C
  hgvsp: ENSP00000379878.2:p.Gly198Ala
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.593G>C
  hgvsp: ENSP00000340982.2:p.Gly198Ala
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.586G>C
  hgvsp: ENSP00000417462.1:p.Gly196Ala
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.123-396G>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.123-396G>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.587G>C
  hgvsp: ENSP00000418072.1:p.Gly196Ala
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.593G>C
  hgvsp: ENSP00000418530.1:p.Gly198Ala
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.131-396G>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+304G>C
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly198Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

9-35811458-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811458
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811458
    reference: chr 9
allele count: 4
allele frequency: 3.305621208865676e-5
allele num: 121006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.585T>C
  hgvsp: ENST00000475644.1:c.585T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+296T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.131-404T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.585T>C
  hgvsp: ENST00000396638.2:c.585T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.123-404T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.579T>C
  hgvsp: ENST00000484764.1:c.579T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.585T>C
  hgvsp: ENST00000340291.2:c.585T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.123-404T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.578T>C
  hgvsp: ENST00000497810.1:c.578T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8901
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro195Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

9-35811469-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811469
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811469
    reference: chr 9
allele count: 2
allele frequency: 1.658567329540743e-5
allele num: 120586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.131-415C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.567C>T
  hgvsp: ENSP00000417462.1:p.His190Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.123-415C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.123-415C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.574C>T
  hgvsp: ENSP00000379878.2:p.His192Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.574C>T
  hgvsp: ENSP00000340982.2:p.His192Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.568C>T
  hgvsp: ENSP00000418072.1:p.His190Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+285C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.574C>T
  hgvsp: ENSP00000418530.1:p.His192Tyr
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His192Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

9-35811469-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811469
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811469
    reference: chr 9
allele count: 3
allele frequency: 2.487850994311114e-5
allele num: 120586
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+285C>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.574C>G
  hgvsp: ENSP00000340982.2:p.His192Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.574C>G
  hgvsp: ENSP00000379878.2:p.His192Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.568C>G
  hgvsp: ENSP00000418072.1:p.His190Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.123-415C>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.123-415C>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.574C>G
  hgvsp: ENSP00000418530.1:p.His192Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.131-415C>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.567C>G
  hgvsp: ENSP00000417462.1:p.His190Asp
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8875
  bin: 9.75e1
  variant carriers: 3
hgvs: p.His192Asp
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

9-35811470-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811470
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811470
    reference: chr 9
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.573T>C
  hgvsp: ENST00000475644.1:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.566T>C
  hgvsp: ENST00000497810.1:c.566T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.123-416T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.123-416T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.573T>C
  hgvsp: ENST00000396638.2:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+284T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.131-416T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.573T>C
  hgvsp: ENST00000340291.2:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.567T>C
  hgvsp: ENST00000484764.1:c.567T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser191Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

9-35811473-GCCAGAGCCATGACCAGGACCAGAGCCAGGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811473
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811443
    reference: chr 9
allele count: 1
allele frequency: 8.299443937256203e-6
allele num: 120490
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsp: ENSP00000418530.1:p.Pro181_Gly190del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: mature_miRNA_variant
  ensembl gene: ENSG00000263448
  ensembl transcript: ENST00000582432
  gene symbol: AL133410.1
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsp: ENSP00000418072.1:p.Pro179_Gly188del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsp: ENSP00000379878.2:p.Pro181_Gly190del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsp: ENSP00000417462.1:p.Pro179_Gly188del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsp: ENSP00000340982.2:p.Pro181_Gly190del
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9314
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro181_Gly190del
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: GCCAGAGCCATGACCAGGACCAGAGCCAGGA
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

9-35811483-TGACCAGGACCAGAGCCAGGACCAGAGCCAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811483
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811453
    reference: chr 9
allele count: 1
allele frequency: 8.363861427543869e-6
allele num: 119562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsp: ENSP00000418072.1:p.Pro175_Gly184del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsp: ENSP00000379878.2:p.Pro177_Gly186del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsp: ENSP00000418530.1:p.Pro177_Gly186del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsp: ENSP00000417462.1:p.Pro175_Gly184del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: mature_miRNA_variant
  ensembl gene: ENSG00000263448
  ensembl transcript: ENST00000582432
  gene symbol: AL133410.1
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsp: ENSP00000340982.2:p.Pro177_Gly186del
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro177_Gly186del
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TGACCAGGACCAGAGCCAGGACCAGAGCCAG
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

9-35811485-A-ACCAGGACCAGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811485
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811497
    reference: chr 9
allele count: 1
allele frequency: 8.464390309965973e-6
allele num: 118142
alternate allele: ACCAGGACCAGAG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsp: ENSP00000418072.1:p.Ser181_Gly184dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsp: ENSP00000417462.1:p.Ser181_Gly184dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsp: ENSP00000418530.1:p.Ser183_Gly186dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsp: ENSP00000379878.2:p.Ser183_Gly186dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsp: ENSP00000340982.2:p.Ser183_Gly186dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: mature_miRNA_variant
  ensembl gene: ENSG00000263448
  ensembl transcript: ENST00000582432
  gene symbol: AL133410.1
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9746
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23202
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser183_Gly186dup
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

9-35811485-ACCAGGACCAGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811485
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811473
    reference: chr 9
allele count: 26666
allele frequency: 2.257114320055526e-1
allele num: 118142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsp: ENSP00000417462.1:p.Ser181_Gly184del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsp: ENSP00000418072.1:p.Ser181_Gly184del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsp: ENSP00000418530.1:p.Ser183_Gly186del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsp: ENSP00000379878.2:p.Ser183_Gly186del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsp: ENSP00000340982.2:p.Ser183_Gly186del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: mature_miRNA_variant
  ensembl gene: ENSG00000263448
  ensembl transcript: ENST00000582432
  gene symbol: AL133410.1
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 4.25e1
  variant carriers: 1410
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 9746
  bin: 2.25e1
  variant carriers: 4225
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.75e1
  variant carriers: 861
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 3.75e1
  variant carriers: 2084
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 7.5e0
  variant carriers: 516
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 536
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 3.25e1
  variant carriers: 2877
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 17972
  bin: 2.75e1
  variant carriers: 3817
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 1.25e1
  variant carriers: 1630
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 9.75e1
  variant carriers: 1281
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 1.75e1
  variant carriers: 3192
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 314
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 204
genotype quality: GenotypeQuality
  all individuals: 6340
  bin: 6.75e1
  variant carriers: 143
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.25e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 43
hgvs: p.Ser183_Gly186del
num of homozygotes: 3281
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: ACCAGGACCAGAG
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-35811497-GCCAGGACCAGAGCCAGGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811497
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811479
    reference: chr 9
allele count: 1
allele frequency: 1.406746757448724e-5
allele num: 71086
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsp: ENSP00000379878.2:p.Pro177_Gly182del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsp: ENSP00000340982.2:p.Pro177_Gly182del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsp: ENSP00000418530.1:p.Pro177_Gly182del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsp: ENSP00000418072.1:p.Pro175_Gly180del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsp: ENSP00000417462.1:p.Pro175_Gly180del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: mature_miRNA_variant
  ensembl gene: ENSG00000263448
  ensembl transcript: ENST00000582432
  gene symbol: AL133410.1
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13058
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro177_Gly182del
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: GCCAGGACCAGAGCCAGGA
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

9-35811506-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811506
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811505
    reference: chr 9
allele count: 1
allele frequency: 8.563256777817739e-6
allele num: 116778
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263448
  ensembl transcript: ENST00000582432
  gene symbol: AL133410.1
  hgvsc: ENST00000582432.1:n.41delC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+414delC
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.530delC
  hgvsp: ENSP00000418072.1:p.Ser177LeufsTer73
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+414delC
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.536delC
  hgvsp: ENSP00000418530.1:p.Ser179LeufsTer73
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+414delC
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.529delC
  hgvsp: ENSP00000417462.1:p.Ser177LeufsTer73
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+247delC
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.536delC
  hgvsp: ENSP00000379878.2:p.Ser179LeufsTer73
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.536delC
  hgvsp: ENSP00000340982.2:p.Ser179LeufsTer73
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19241
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser179LeufsTer73
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: AG
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

9-35811508-AGCCAGGACCAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811508
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811497
    reference: chr 9
allele count: 1
allele frequency: 8.799873281824741e-6
allele num: 113638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsp: ENSP00000417462.1:p.Pro173LeufsTer28
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsp: ENSP00000379878.2:p.Pro175LeufsTer28
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsp: ENSP00000340982.2:p.Pro175LeufsTer28
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsp: ENSP00000418530.1:p.Pro175LeufsTer28
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263448
  ensembl transcript: ENST00000582432
  gene symbol: AL133410.1
  hgvsc: ENST00000582432.1:n.29_39delCTGGTCCTGGC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsp: ENSP00000418072.1:p.Pro173LeufsTer28
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10744
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro175LeufsTer28
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: AGCCAGGACCAG
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

9-35811509-G-GCCAGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811509
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811515
    reference: chr 9
allele count: 3
allele frequency: 2.633565672349316e-5
allele num: 113914
alternate allele: GCCAGGA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.522_527dupTCCTGG
  hgvsp: ENSP00000418072.1:p.Pro175_Gly176dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+406_130+411dupTCCTGG
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.528_533dupTCCTGG
  hgvsp: ENSP00000418530.1:p.Pro177_Gly178dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.528_533dupTCCTGG
  hgvsp: ENSP00000340982.2:p.Pro177_Gly178dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+406_122+411dupTCCTGG
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.528_533dupTCCTGG
  hgvsp: ENSP00000379878.2:p.Pro177_Gly178dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.521_526dupTCCTGG
  hgvsp: ENSP00000417462.1:p.Pro175_Gly176dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+406_122+411dupTCCTGG
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263448
  ensembl transcript: ENST00000582432
  gene symbol: AL133410.1
  hgvsc: ENST00000582432.1:n.33_38dupTCCTGG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+239_289+244dupTCCTGG
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18111
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10646
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro177_Gly178dup
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: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

9-35811511-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811511
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811511
    reference: chr 9
allele count: 1
allele frequency: 8.658758334054896e-6
allele num: 115490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+410G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.525G>A
  hgvsp: ENSP00000417462.1:p.Gly176Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.532G>A
  hgvsp: ENSP00000340982.2:p.Gly178Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+410G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.526G>A
  hgvsp: ENSP00000418072.1:p.Gly176Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+243G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263448
  ensembl transcript: ENST00000582432
  gene symbol: AL133410.1
  hgvsc: ENST00000582432.1:n.37G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.532G>A
  hgvsp: ENSP00000379878.2:p.Gly178Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.532G>A
  hgvsp: ENSP00000418530.1:p.Gly178Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+410G>A
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly178Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

9-35811522-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811522
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811522
    reference: chr 9
allele count: 1
allele frequency: 8.835483300936561e-6
allele num: 113180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.514G>A
  hgvsp: ENSP00000417462.1:p.Gly172Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.515G>A
  hgvsp: ENSP00000418072.1:p.Gly172Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.521G>A
  hgvsp: ENSP00000418530.1:p.Gly174Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+399G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+232G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.521G>A
  hgvsp: ENSP00000379878.2:p.Gly174Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.521G>A
  hgvsp: ENSP00000340982.2:p.Gly174Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263448
  ensembl transcript: ENST00000582432
  gene symbol: AL133410.1
  hgvsc: ENST00000582432.1:n.26G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+399G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+399G>A
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3589
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly174Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

9-35811523-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811523
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811523
    reference: chr 9
allele count: 1
allele frequency: 8.847678369195924e-6
allele num: 113024
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.520G>C
  hgvsp: ENSP00000340982.2:p.Gly174Arg
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+398G>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+398G>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263448
  ensembl transcript: ENST00000582432
  gene symbol: AL133410.1
  hgvsc: ENST00000582432.1:n.25G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.513G>C
  hgvsp: ENSP00000417462.1:p.Gly172Arg
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.520G>C
  hgvsp: ENSP00000418530.1:p.Gly174Arg
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.520G>C
  hgvsp: ENSP00000379878.2:p.Gly174Arg
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+231G>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.514G>C
  hgvsp: ENSP00000418072.1:p.Gly172Arg
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+398G>C
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11570
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5868
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly174Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

9-35811527-GCCAGAGCCAGGGACAGAGCCACAGCCAGGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811527
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811497
    reference: chr 9
allele count: 2
allele frequency: 1.754909358931611e-5
allele num: 113966
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsp: ENSP00000379878.2:p.Pro163_Gly172del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsp: ENSP00000418072.1:p.Pro161_Gly170del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsp: ENSP00000340982.2:p.Pro163_Gly172del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsp: ENSP00000417462.1:p.Pro161_Gly170del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263448
  ensembl transcript: ENST00000582432
  gene symbol: AL133410.1
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsp: ENSP00000418530.1:p.Pro163_Gly172del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14820
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro163_Gly172del
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: GCCAGAGCCAGGGACAGAGCCACAGCCAGGA
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

9-35811531-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811531
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811531
    reference: chr 9
allele count: 1
allele frequency: 8.773469029654325e-6
allele num: 113980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+390C>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.512C>G
  hgvsp: ENSP00000418530.1:p.Ser171Cys
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+223C>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263448
  ensembl transcript: ENST00000582432
  gene symbol: AL133410.1
  hgvsc: ENST00000582432.1:n.17C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+390C>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.512C>G
  hgvsp: ENSP00000340982.2:p.Ser171Cys
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+390C>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.512C>G
  hgvsp: ENSP00000379878.2:p.Ser171Cys
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.506C>G
  hgvsp: ENSP00000418072.1:p.Ser169Cys
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.505C>G
  hgvsp: ENSP00000417462.1:p.Ser169Cys
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12663
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4072
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser171Cys
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

9-35811540-A-ACAGAGCCACAGCCAGGACCAGAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811540
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811564
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 112106
alternate allele: ACAGAGCCACAGCCAGGACCAGAGC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000263448
  ensembl transcript: ENST00000582432
  gene symbol: AL133410.1
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsp: ENSP00000417462.1:p.Gly158_Ser165dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsp: ENSP00000418530.1:p.Gly160_Ser167dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsp: ENSP00000418072.1:p.Gly158_Ser165dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsp: ENSP00000340982.2:p.Gly160_Ser167dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsp: ENSP00000379878.2:p.Gly160_Ser167dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9849
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly160_Ser167dup
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

9-35811549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811549
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811549
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 112174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+372G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.488G>A
  hgvsp: ENSP00000418072.1:p.Cys163Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+372G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.487G>A
  hgvsp: ENSP00000417462.1:p.Cys163Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+372G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.494G>A
  hgvsp: ENSP00000340982.2:p.Cys165Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.494G>A
  hgvsp: ENSP00000379878.2:p.Cys165Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.494G>A
  hgvsp: ENSP00000418530.1:p.Cys165Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+205G>A
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys165Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

9-35811555-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811555
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811555
    reference: chr 9
allele count: 1
allele frequency: 8.767930417704205e-6
allele num: 114052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.488C>A
  hgvsp: ENSP00000379878.2:p.Pro163His
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.488C>A
  hgvsp: ENSP00000418530.1:p.Pro163His
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.481C>A
  hgvsp: ENSP00000417462.1:p.Pro161His
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+366C>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+366C>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+366C>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.488C>A
  hgvsp: ENSP00000340982.2:p.Pro163His
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+199C>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.482C>A
  hgvsp: ENSP00000418072.1:p.Pro161His
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro163His
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-35811556-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811556
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811556
    reference: chr 9
allele count: 3
allele frequency: 2.631763632535617e-5
allele num: 113992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.487C>T
  hgvsp: ENSP00000418530.1:p.Pro163Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+365C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.487C>T
  hgvsp: ENSP00000340982.2:p.Pro163Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.481C>T
  hgvsp: ENSP00000418072.1:p.Pro161Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+365C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+198C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.487C>T
  hgvsp: ENSP00000379878.2:p.Pro163Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+365C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.480C>T
  hgvsp: ENSP00000417462.1:p.Pro161Ser
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16344
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro163Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

9-35811557-A-ACCAGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811557
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811563
    reference: chr 9
allele count: 1
allele frequency: 8.776395007986519e-6
allele num: 113942
alternate allele: ACCAGAG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.480_485dupCTCTGG
  hgvsp: ENSP00000418530.1:p.Ser161_Gly162dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.480_485dupCTCTGG
  hgvsp: ENSP00000340982.2:p.Ser161_Gly162dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+358_122+363dupCTCTGG
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.474_479dupCTCTGG
  hgvsp: ENSP00000418072.1:p.Ser159_Gly160dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.473_478dupCTCTGG
  hgvsp: ENSP00000417462.1:p.Ser159_Gly160dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.480_485dupCTCTGG
  hgvsp: ENSP00000379878.2:p.Ser161_Gly162dup
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+358_122+363dupCTCTGG
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+191_289+196dupCTCTGG
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+358_130+363dupCTCTGG
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13784
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser161_Gly162dup
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/9-35811558-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811558
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811558
    reference: chr 9
allele count: 1
allele frequency: 8.786574114752658e-6
allele num: 113810
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.485G>T
  hgvsp: ENSP00000340982.2:p.Gly162Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.479G>T
  hgvsp: ENSP00000418072.1:p.Gly160Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.485G>T
  hgvsp: ENSP00000379878.2:p.Gly162Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+363G>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+363G>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+363G>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.485G>T
  hgvsp: ENSP00000418530.1:p.Gly162Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.478G>T
  hgvsp: ENSP00000417462.1:p.Gly160Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+196G>T
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15751
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly162Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

9-35811574-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811574
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811574
    reference: chr 9
allele count: 1
allele frequency: 8.631404502140589e-6
allele num: 115856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.462T>C
  hgvsp: ENSP00000417462.1:p.Ser155Pro
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+347T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.463T>C
  hgvsp: ENSP00000418072.1:p.Ser155Pro
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+180T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+347T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.469T>C
  hgvsp: ENSP00000340982.2:p.Ser157Pro
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.469T>C
  hgvsp: ENSP00000418530.1:p.Ser157Pro
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.469T>C
  hgvsp: ENSP00000379878.2:p.Ser157Pro
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+347T>C
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19615
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser157Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

9-35811583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811583
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811583
    reference: chr 9
allele count: 1
allele frequency: 8.541022531217438e-6
allele num: 117082
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.460G>A
  hgvsp: ENSP00000340982.2:p.Gly154Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+171G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+338G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.460G>A
  hgvsp: ENSP00000379878.2:p.Gly154Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+338G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.460G>A
  hgvsp: ENSP00000418530.1:p.Gly154Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+338G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.454G>A
  hgvsp: ENSP00000418072.1:p.Gly152Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.453G>A
  hgvsp: ENSP00000417462.1:p.Gly152Ser
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8582
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly154Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

9-35811588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811588
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811588
    reference: chr 9
allele count: 1
allele frequency: 8.48838788537281e-6
allele num: 117808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+333G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.455G>A
  hgvsp: ENSP00000418530.1:p.Gly152Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.455G>A
  hgvsp: ENSP00000379878.2:p.Gly152Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.449G>A
  hgvsp: ENSP00000418072.1:p.Gly150Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+333G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+333G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.455G>A
  hgvsp: ENSP00000340982.2:p.Gly152Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.448G>A
  hgvsp: ENSP00000417462.1:p.Gly150Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+166G>A
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34689
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly152Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

9-35811600-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811600
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811600
    reference: chr 9
allele count: 2
allele frequency: 1.67467720596855e-5
allele num: 119426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+321G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.443G>A
  hgvsp: ENSP00000340982.2:p.Gly148Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.443G>A
  hgvsp: ENSP00000418530.1:p.Gly148Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.443G>A
  hgvsp: ENSP00000379878.2:p.Gly148Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.436G>A
  hgvsp: ENSP00000417462.1:p.Gly146Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+321G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+154G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.437G>A
  hgvsp: ENSP00000418072.1:p.Gly146Asp
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+321G>A
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly148Asp
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: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

9-35811609-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811609
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811609
    reference: chr 9
allele count: 1
allele frequency: 8.310479514667997e-6
allele num: 120330
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.434C>A
  hgvsp: ENSP00000340982.2:p.Pro145His
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.434C>A
  hgvsp: ENSP00000418530.1:p.Pro145His
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+312C>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+312C>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+145C>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+312C>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.434C>A
  hgvsp: ENSP00000379878.2:p.Pro145His
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.428C>A
  hgvsp: ENSP00000418072.1:p.Pro143His
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.427C>A
  hgvsp: ENSP00000417462.1:p.Pro143His
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro145His
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

9-35811611-CCCAGAGCTAGAGCCTGGAACAGGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811611
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811587
    reference: chr 9
allele count: 15
allele frequency: 1.245309334838774e-4
allele num: 120452
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsp: ENSP00000379878.2:p.Pro139_Val146del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsp: ENSP00000417462.1:p.Pro137_Val144del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsp: ENSP00000418530.1:p.Pro139_Val146del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsp: ENSP00000418072.1:p.Pro137_Val144del
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsp: ENSP00000340982.2:p.Pro139_Val146del
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 19009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro139_Val146del
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: CCCAGAGCTAGAGCCTGGAACAGGG
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-35811611-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811611
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811611
    reference: chr 9
allele count: 1
allele frequency: 8.302062232258493e-6
allele num: 120452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.432G>T
  hgvsp: ENST00000396638.2:c.432G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.426G>T
  hgvsp: ENST00000484764.1:c.426G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.432G>T
  hgvsp: ENST00000475644.1:c.432G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+310G>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+310G>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.425G>T
  hgvsp: ENST00000497810.1:c.425G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+143G>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+310G>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.432G>T
  hgvsp: ENST00000340291.2:c.432G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly144Gly
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

9-35811616-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811616
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811616
    reference: chr 9
allele count: 1
allele frequency: 8.279653579294243e-6
allele num: 120778
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.427T>C
  hgvsp: ENSP00000340982.2:p.Ser143Pro
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+305T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+138T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+305T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.427T>C
  hgvsp: ENSP00000379878.2:p.Ser143Pro
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+305T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.421T>C
  hgvsp: ENSP00000418072.1:p.Ser141Pro
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.427T>C
  hgvsp: ENSP00000418530.1:p.Ser143Pro
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.420T>C
  hgvsp: ENSP00000417462.1:p.Ser141Pro
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser143Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

9-35811619-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811619
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811619
    reference: chr 9
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.424A>G
  hgvsp: ENSP00000340982.2:p.Ser142Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.424A>G
  hgvsp: ENSP00000379878.2:p.Ser142Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+302A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.417A>G
  hgvsp: ENSP00000417462.1:p.Ser140Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+302A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+302A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.424A>G
  hgvsp: ENSP00000418530.1:p.Ser142Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.418A>G
  hgvsp: ENSP00000418072.1:p.Ser140Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+135A>G
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser142Gly
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

9-35811642-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811642
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811642
    reference: chr 9
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.401A>G
  hgvsp: ENSP00000379878.2:p.Asn134Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+279A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+112A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+279A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.394A>G
  hgvsp: ENSP00000417462.1:p.Asn132Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.395A>G
  hgvsp: ENSP00000418072.1:p.Asn132Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.401A>G
  hgvsp: ENSP00000340982.2:p.Asn134Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.401A>G
  hgvsp: ENSP00000418530.1:p.Asn134Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+279A>G
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8915
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn134Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

9-35811647-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811647
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811647
    reference: chr 9
allele count: 6
allele frequency: 4.951148666490626e-5
allele num: 121184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.390T>C
  hgvsp: ENST00000484764.1:c.390T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+107T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+274T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+274T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.389T>C
  hgvsp: ENST00000497810.1:c.389T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.396T>C
  hgvsp: ENST00000396638.2:c.396T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.396T>C
  hgvsp: ENST00000475644.1:c.396T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.396T>C
  hgvsp: ENST00000340291.2:c.396T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+274T>C
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10135
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser132Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD

9-35811648-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811648
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811648
    reference: chr 9
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+273G>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+273G>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+273G>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+106G>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.395G>C
  hgvsp: ENSP00000340982.2:p.Ser132Thr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.395G>C
  hgvsp: ENSP00000379878.2:p.Ser132Thr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.389G>C
  hgvsp: ENSP00000418072.1:p.Ser130Thr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.395G>C
  hgvsp: ENSP00000418530.1:p.Ser132Thr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.388G>C
  hgvsp: ENSP00000417462.1:p.Ser130Thr
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8926
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser132Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

9-35811649-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811649
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811649
    reference: chr 9
allele count: 10
allele frequency: 8.251778258214645e-5
allele num: 121186
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.394A>G
  hgvsp: ENSP00000340982.2:p.Ser132Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.387A>G
  hgvsp: ENSP00000417462.1:p.Ser130Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.394A>G
  hgvsp: ENSP00000379878.2:p.Ser132Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.388A>G
  hgvsp: ENSP00000418072.1:p.Ser130Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+272A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+272A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.394A>G
  hgvsp: ENSP00000418530.1:p.Ser132Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+105A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+272A>G
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8923
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser132Gly
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

9-35811650-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811650
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811650
    reference: chr 9
allele count: 2
allele frequency: 1.650328415354656e-5
allele num: 121188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.393T>C
  hgvsp: ENST00000396638.2:c.393T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+104T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.393T>C
  hgvsp: ENST00000340291.2:c.393T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+271T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+271T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+271T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.387T>C
  hgvsp: ENST00000484764.1:c.387T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.393T>C
  hgvsp: ENST00000475644.1:c.393T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.386T>C
  hgvsp: ENST00000497810.1:c.386T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His131His
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

9-35811651-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811651
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811651
    reference: chr 9
allele count: 2
allele frequency: 1.649865535958819e-5
allele num: 121222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+270A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+270A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.392A>G
  hgvsp: ENSP00000418530.1:p.His131Arg
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.385A>G
  hgvsp: ENSP00000417462.1:p.His129Arg
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+270A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.386A>G
  hgvsp: ENSP00000418072.1:p.His129Arg
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+103A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.392A>G
  hgvsp: ENSP00000379878.2:p.His131Arg
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.392A>G
  hgvsp: ENSP00000340982.2:p.His131Arg
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His131Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

9-35811661-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811661
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811661
    reference: chr 9
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.376A>G
  hgvsp: ENSP00000418072.1:p.Thr126Ala
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.382A>G
  hgvsp: ENSP00000379878.2:p.Thr128Ala
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+260A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+260A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.382A>G
  hgvsp: ENSP00000418530.1:p.Thr128Ala
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+260A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+93A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.382A>G
  hgvsp: ENSP00000340982.2:p.Thr128Ala
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.375A>G
  hgvsp: ENSP00000417462.1:p.Thr126Ala
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr128Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

9-35811665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811665
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811665
    reference: chr 9
allele count: 10
allele frequency: 8.24783082049421e-5
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+256C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.378C>T
  hgvsp: ENST00000475644.1:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.371C>T
  hgvsp: ENST00000497810.1:c.371C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+256C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.372C>T
  hgvsp: ENST00000484764.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+256C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.378C>T
  hgvsp: ENST00000340291.2:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+89C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.378C>T
  hgvsp: ENST00000396638.2:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys126Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

9-35811672-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811672
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811672
    reference: chr 9
allele count: 2
allele frequency: 1.649375711293276e-5
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.371A>G
  hgvsp: ENSP00000418530.1:p.Asp124Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.365A>G
  hgvsp: ENSP00000418072.1:p.Asp122Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.371A>G
  hgvsp: ENSP00000340982.2:p.Asp124Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.371A>G
  hgvsp: ENSP00000379878.2:p.Asp124Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+249A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.364A>G
  hgvsp: ENSP00000417462.1:p.Asp122Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+249A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+249A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+82A>G
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp124Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: DP

9-35811687-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811687
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811687
    reference: chr 9
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.350C>T
  hgvsp: ENSP00000418072.1:p.Ser117Phe
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.356C>T
  hgvsp: ENSP00000340982.2:p.Ser119Phe
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.356C>T
  hgvsp: ENSP00000379878.2:p.Ser119Phe
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+234C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.349C>T
  hgvsp: ENSP00000417462.1:p.Ser117Phe
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+234C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+234C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+67C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.356C>T
  hgvsp: ENSP00000418530.1:p.Ser119Phe
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser119Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

9-35811687-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811687
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811687
    reference: chr 9
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.350C>A
  hgvsp: ENSP00000418072.1:p.Ser117Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+234C>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+234C>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+234C>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.356C>A
  hgvsp: ENSP00000340982.2:p.Ser119Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+67C>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.356C>A
  hgvsp: ENSP00000418530.1:p.Ser119Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.356C>A
  hgvsp: ENSP00000379878.2:p.Ser119Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.349C>A
  hgvsp: ENSP00000417462.1:p.Ser117Tyr
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser119Tyr
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

9-35811691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811691
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811691
    reference: chr 9
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.352G>A
  hgvsp: ENSP00000379878.2:p.Val118Ile
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+63G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+230G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.352G>A
  hgvsp: ENSP00000340982.2:p.Val118Ile
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.352G>A
  hgvsp: ENSP00000418530.1:p.Val118Ile
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.345G>A
  hgvsp: ENSP00000417462.1:p.Val116Ile
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+230G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.346G>A
  hgvsp: ENSP00000418072.1:p.Val116Ile
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+230G>A
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val118Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

9-35811695-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811695
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811695
    reference: chr 9
allele count: 3
allele frequency: 2.474594166556685e-5
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+226C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+59C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.342C>T
  hgvsp: ENST00000484764.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.348C>T
  hgvsp: ENST00000340291.2:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+226C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+226C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.348C>T
  hgvsp: ENST00000396638.2:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.341C>T
  hgvsp: ENST00000497810.1:c.341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.348C>T
  hgvsp: ENST00000475644.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38608
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val116Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

9-35811697-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811697
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811697
    reference: chr 9
allele count: 26
allele frequency: 2.144683659160274e-4
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+57G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+224G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+224G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+224G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.339G>A
  hgvsp: ENSP00000417462.1:p.Val114Ile
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.346G>A
  hgvsp: ENSP00000379878.2:p.Val116Ile
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.346G>A
  hgvsp: ENSP00000340982.2:p.Val116Ile
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.340G>A
  hgvsp: ENSP00000418072.1:p.Val114Ile
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.346G>A
  hgvsp: ENSP00000418530.1:p.Val116Ile
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 19560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val116Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

9-35811698-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811698
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811698
    reference: chr 9
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+223C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+223C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.339C>T
  hgvsp: ENST00000484764.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.345C>T
  hgvsp: ENST00000396638.2:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+223C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.345C>T
  hgvsp: ENST00000475644.1:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+56C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.345C>T
  hgvsp: ENST00000340291.2:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.338C>T
  hgvsp: ENST00000497810.1:c.338C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38605
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro115Pro
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

9-35811715-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811715
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811715
    reference: chr 9
allele count: 413
allele frequency: 3.407646990874437e-3
allele num: 121198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+206A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.328A>G
  hgvsp: ENSP00000379878.2:p.Ser110Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.322A>G
  hgvsp: ENSP00000418072.1:p.Ser108Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+206A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+39A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.328A>G
  hgvsp: ENSP00000340982.2:p.Ser110Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.328A>G
  hgvsp: ENSP00000418530.1:p.Ser110Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.321A>G
  hgvsp: ENSP00000417462.1:p.Ser108Gly
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+206A>G
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23705
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19405
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10046
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 256
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser110Gly
num of homozygotes: 2
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

9-35811717-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811717
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811717
    reference: chr 9
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+204G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.326G>A
  hgvsp: ENSP00000418530.1:p.Gly109Glu
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.326G>A
  hgvsp: ENSP00000340982.2:p.Gly109Glu
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+204G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+204G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.319G>A
  hgvsp: ENSP00000417462.1:p.Gly107Glu
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.326G>A
  hgvsp: ENSP00000379878.2:p.Gly109Glu
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.320G>A
  hgvsp: ENSP00000418072.1:p.Gly107Glu
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+37G>A
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly109Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

9-35811723-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811723
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811723
    reference: chr 9
allele count: 9
allele frequency: 7.426355309844046e-5
allele num: 121190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.320C>T
  hgvsp: ENSP00000418530.1:p.Ala107Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+198C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+31C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.313C>T
  hgvsp: ENSP00000417462.1:p.Ala105Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.314C>T
  hgvsp: ENSP00000418072.1:p.Ala105Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.320C>T
  hgvsp: ENSP00000340982.2:p.Ala107Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+198C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.320C>T
  hgvsp: ENSP00000379878.2:p.Ala107Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+198C>T
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala107Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

9-35811727-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811727
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811727
    reference: chr 9
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+194A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+194A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.309A>G
  hgvsp: ENSP00000417462.1:p.Ile104Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.316A>G
  hgvsp: ENSP00000379878.2:p.Ile106Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+27A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.316A>G
  hgvsp: ENSP00000418530.1:p.Ile106Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.310A>G
  hgvsp: ENSP00000418072.1:p.Ile104Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.316A>G
  hgvsp: ENSP00000340982.2:p.Ile106Val
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+194A>G
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile106Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

9-35811728-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811728
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811728
    reference: chr 9
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+26T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.315T>C
  hgvsp: ENST00000475644.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+193T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.308T>C
  hgvsp: ENST00000497810.1:c.308T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.309T>C
  hgvsp: ENST00000484764.1:c.309T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+193T>C
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.315T>C
  hgvsp: ENST00000340291.2:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.315T>C
  hgvsp: ENST00000396638.2:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+193T>C
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn105Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

9-35811729-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811729
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811729
    reference: chr 9
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.314A>G
  hgvsp: ENSP00000340982.2:p.Asn105Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.307A>G
  hgvsp: ENSP00000417462.1:p.Asn103Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.308A>G
  hgvsp: ENSP00000418072.1:p.Asn103Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+192A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+192A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.314A>G
  hgvsp: ENSP00000418530.1:p.Asn105Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.314A>G
  hgvsp: ENSP00000379878.2:p.Asn105Ser
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+192A>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+25A>G
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn105Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

9-35811730-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811730
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811730
    reference: chr 9
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.307A>T
  hgvsp: ENSP00000418072.1:p.Asn103Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+24A>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.313A>T
  hgvsp: ENSP00000379878.2:p.Asn105Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.306A>T
  hgvsp: ENSP00000417462.1:p.Asn103Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+191A>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.313A>T
  hgvsp: ENSP00000418530.1:p.Asn105Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+191A>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.313A>T
  hgvsp: ENSP00000340982.2:p.Asn105Tyr
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+191A>T
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38277
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn105Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

9-35811732-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811732
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811731
    reference: chr 9
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.310delC
  hgvsp: ENSP00000340982.2:p.His104ThrfsTer3
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.303delC
  hgvsp: ENSP00000417462.1:p.His102ThrfsTer3
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.310delC
  hgvsp: ENSP00000418530.1:p.His104ThrfsTer3
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.304delC
  hgvsp: ENSP00000418072.1:p.His102ThrfsTer3
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+188delC
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+188delC
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+188delC
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+21delC
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.310delC
  hgvsp: ENSP00000379878.2:p.His104ThrfsTer3
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8917
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His104ThrfsTer3
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: TG
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

9-35811740-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811740
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811740
    reference: chr 9
allele count: 12
allele frequency: 9.906221106855105e-5
allele num: 121136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+14C>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+181C>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.297C>G
  hgvsp: ENST00000484764.1:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.303C>G
  hgvsp: ENST00000340291.2:c.303C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.296C>G
  hgvsp: ENST00000497810.1:c.296C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+181C>G
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.303C>G
  hgvsp: ENST00000475644.1:c.303C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.303C>G
  hgvsp: ENST00000396638.2:c.303C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+181C>G
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly101Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

9-35811743-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811743
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811743
    reference: chr 9
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418530
  ensembl transcript: ENST00000475644
  gene symbol: SPAG8
  hgvsc: ENST00000475644.1:c.300C>T
  hgvsp: ENST00000475644.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+11C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000340982
  ensembl transcript: ENST00000340291
  gene symbol: SPAG8
  hgvsc: ENST00000340291.2:c.300C>T
  hgvsp: ENST00000340291.2:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000417462
  ensembl transcript: ENST00000497810
  gene symbol: SPAG8
  hgvsc: ENST00000497810.1:c.293C>T
  hgvsp: ENST00000497810.1:c.293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+178C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000379878
  ensembl transcript: ENST00000396638
  gene symbol: SPAG8
  hgvsc: ENST00000396638.2:c.300C>T
  hgvsp: ENST00000396638.2:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl transcript: ENST00000463889
  gene symbol: SPAG8
  hgvsc: ENST00000463889.1:n.130+178C>T
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.294C>T
  hgvsp: ENST00000484764.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+178C>T
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro100Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

9-35811748-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35811748
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 35811748
    reference: chr 9
allele count: 12
allele frequency: 9.90720253624385e-5
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418072
  ensembl transcript: ENST00000484764
  gene symbol: SPAG8
  hgvsc: ENST00000484764.1:c.289G>A
  hgvsp: ENSP00000418072.1:p.Gly97Arg
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000419280
  ensembl transcript: ENST00000471631
  gene symbol: SPAG8
  hgvsc: ENST00000471631.1:c.122+173G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000420413
  ensembl transcript: ENST00000495667
  gene symbol: SPAG8
  hgvsc: ENST00000495667.1:c.122+173G>A
  variant of: http://identifiers.org/hgnc/14105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137098
  ensembl protein: ENSP00000418215
  ensembl transcript: ENST00000472605
  gene symbol: SPAG8
  hgvsc: ENST00000472605.1:c.289+6G>A
  variant of: http://identifiers.org/hgnc/14105
canonical: true
consequence: missense
filter: PASS
hgvs: p.Gly99Arg
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9695
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3389
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2859
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 261
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3996
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9191
bin: 9.75e1
variant carriers: 75

GenotypeQuality
all individuals: 1376
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27540
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.599280143971206e-4
allele num: 66680
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: 9908
num of homozygotes: 0

South Asian
type: Population
allele count: 50
allele frequency: 3.03030303030303e-3
allele num: 16500
num of homozygotes: 1

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.342e1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.563e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.86e0

DP
type: SiteQuality
SIO_000300: 2.21651e6

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

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9127
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 9707
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27599
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4001
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2863
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3391
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1377
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
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: 904
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 1.102e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

DP
type: SiteQuality
SIO_000300: 2.205504e6

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

QD
type: SiteQuality
SIO_000300: 1.299e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

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

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

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9711
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3389
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2862
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9125
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1377
bin: 8.75e1
variant carriers: 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: 9930
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
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: 11564
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 7.061e0

VQSLOD
type: SiteQuality
SIO_000300: -9.080000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

QD
type: SiteQuality
SIO_000300: 1.612e1

DP
type: SiteQuality
SIO_000300: 2.205138e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.48e-1

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2038
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9125
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27642
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3984
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9670
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2852
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.782e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

FS
type: SiteQuality
SIO_000300: 2.698e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.82e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.211e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.218e0

DP
type: SiteQuality
SIO_000300: 2.204734e6

GenotypeQuality
all individuals: 2851
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2038
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3984
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27629
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9661
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9124
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 86
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 8.75e1
variant carriers: 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: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.504127269998499e-5
allele num: 66630
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.204498e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.239e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.273e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

FS
type: SiteQuality
SIO_000300: 1.899e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: -4.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9121
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2850
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9649
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27549
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 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: 10180
num of homozygotes: 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: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.111e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.413e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.203082e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

VQSLOD
type: SiteQuality
SIO_000300: 5.38e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.301e0

BaseQRankSum
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SIO_000300: 7.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
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SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 2.201779e6

VQSLOD
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SIO_000300: -1.289e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.312e0

GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.200646e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 1.697e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

VQSLOD
type: SiteQuality
SIO_000300: -1.859e-1

QD
type: SiteQuality
SIO_000300: 1.616e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9606
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.198752e6

MQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.908e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.287000000000001e0

FS
type: SiteQuality
SIO_000300: 2.861e0

VQSLOD
type: SiteQuality
SIO_000300: 5.05e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.372e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

MQ
type: SiteQuality
SIO_000300: 5.857e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.393e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

DP
type: SiteQuality
SIO_000300: 2.196548e6

FS
type: SiteQuality
SIO_000300: 8.518000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.237e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 407

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

Latino
type: Population
allele count: 13
allele frequency: 1.125151462696901e-3
allele num: 11554
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)
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allele count: 4
allele frequency: 6.011060351045924e-5
allele num: 66544
num of homozygotes: 0

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

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

African
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allele count: 398
allele frequency: 3.845410628019324e-2
allele num: 10350
num of homozygotes: 8

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.919e1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.19701e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.21e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e-1

QD
type: SiteQuality
SIO_000300: 1.422e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

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

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

African
type: Population
allele count: 3
allele frequency: 2.898550724637681e-4
allele num: 10350
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 2.180045e6

FS
type: SiteQuality
SIO_000300: 8.347e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.018657839301836e-5
allele num: 66460
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.17689e6

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.78e0

FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 4.5e-3

ReadPosRankSum
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SIO_000300: -6.909999999999999e-1

ClippingRankSum
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VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.858e1

QD
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SIO_000300: 1.45e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 26611
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.763e1

BaseQRankSum
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VQSLOD
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SIO_000300: -1.318e0

MQRankSum
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SIO_000300: -1.48e-1

DP
type: SiteQuality
SIO_000300: 2.165109e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.28e-1

FS
type: SiteQuality
SIO_000300: 3.612e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e-1

QD
type: SiteQuality
SIO_000300: 1.497e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.601456815816858e-4
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.165109e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e-1

FS
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VQSLOD
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ReadPosRankSum
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SIO_000300: -1.28e-1

MQ
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MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

QD
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SIO_000300: 1.497e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.455e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66176
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 9.571e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: -1.703e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66118
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.733307377846993e-5
allele num: 10274
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.39e1

ClippingRankSum
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SIO_000300: -1.214e0

MQRankSum
type: SiteQuality
SIO_000300: -1.672e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e0

FS
type: SiteQuality
SIO_000300: 1.177e0

VQSLOD
type: SiteQuality
SIO_000300: -1.026e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.076e0

DP
type: SiteQuality
SIO_000300: 2.159401e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525413387027885e-5
allele num: 65556
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: -2.422e0

MQ
type: SiteQuality
SIO_000300: 5.62e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.58e-1

FS
type: SiteQuality
SIO_000300: 1.641e0

QD
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -6.867e-1

DP
type: SiteQuality
SIO_000300: 2.136495e6

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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GenotypeQuality
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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: 6508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

East 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: 11356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544306143249838e-5
allele num: 64754
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.542e1

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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BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.318e0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 67

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 85

GenotypeQuality
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bin: 7.25e1
variant carriers: 145

European (Non-Finnish)
type: Population
allele count: 12476
allele frequency: 1.926676344318498e-1
allele num: 64754
num of homozygotes: 1166

African
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allele count: 4415
allele frequency: 4.432730923694779e-1
allele num: 9960
num of homozygotes: 966

European (Finnish)
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allele count: 1032
allele frequency: 1.585740626920713e-1
allele num: 6508
num of homozygotes: 87

Latino
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allele count: 2603
allele frequency: 2.292180345191969e-1
allele num: 11356
num of homozygotes: 269

South Asian
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allele count: 3021
allele frequency: 1.836920831813207e-1
allele num: 16446
num of homozygotes: 291

East Asian
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allele count: 2926
allele frequency: 3.552695483244293e-1
allele num: 8236
num of homozygotes: 484

Other
type: Population
allele count: 193
allele frequency: 2.188208616780045e-1
allele num: 882
num of homozygotes: 18

MQ
type: SiteQuality
SIO_000300: 5.542e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.91e-2

DP
type: SiteQuality
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ReadPosRankSum
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3102
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.390285878191032e-5
allele num: 41836
num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11078
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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
allele num: 10000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567840456555141e-5
allele num: 63782
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.47e-1

BaseQRankSum
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VQSLOD
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FS
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SIO_000300: 0.0e0

QD
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.123e0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.580756e6

MQ
type: SiteQuality
SIO_000300: 4.645e1

GenotypeQuality
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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.6116035455278e-5
allele num: 62050
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16318
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

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

ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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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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MQ
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DP
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.825478526620557e-5
allele num: 62170
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10930
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
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ClippingRankSum
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MQRankSum
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SIO_000300: -1.413e0

BaseQRankSum
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SIO_000300: -5.7e-2

InbreedingCoeff
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SIO_000300: -6.2e-3

ReadPosRankSum
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MQ
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.551336e6

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.116207951070337e-5
allele num: 16350
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.815e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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InbreedingCoeff
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SIO_000300: 1.0e-4

BaseQRankSum
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SIO_000300: -1.524e0

DP
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SIO_000300: 1.516315e6

ClippingRankSum
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SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

ReadPosRankSum
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SIO_000300: -1.823e0

VQSLOD
type: SiteQuality
SIO_000300: -3.512e0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7632
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10622
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.618908855431439e-5
allele num: 61770
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.158e1

FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

Other
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South Asian
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allele count: 0
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African
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allele count: 1
allele frequency: 1.039717196922437e-4
allele num: 9618
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7602
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 61742
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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QD
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DP
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ClippingRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 62118
num of homozygotes: 0

European (Finnish)
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East Asian
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Latino
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Other
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African
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South Asian
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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BaseQRankSum
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FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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DP
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MQ
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7496
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61282
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

DP
type: SiteQuality
SIO_000300: 1.420948e6

MQ
type: SiteQuality
SIO_000300: 5.125e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

QD
type: SiteQuality
SIO_000300: 4.89e0

GenotypeQuality
all individuals: 651
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61330
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.227e0

DP
type: SiteQuality
SIO_000300: 1.428188e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.073e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7768
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607665348381081e-5
allele num: 62202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.238e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e0

FS
type: SiteQuality
SIO_000300: 1.4285e1

VQSLOD
type: SiteQuality
SIO_000300: -2.493e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 5.723e1

DP
type: SiteQuality
SIO_000300: 1.44279e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.19e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6303
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10692
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.825789016504198e-5
allele num: 62166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7792
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.476e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

FS
type: SiteQuality
SIO_000300: 1.564e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

DP
type: SiteQuality
SIO_000300: 1.444811e6

GenotypeQuality
all individuals: 308
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.137981831573779e-5
allele num: 16292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62184
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10672
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: -4.965e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

QD
type: SiteQuality
SIO_000300: 7.02e0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 7.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.447686e6

MQ
type: SiteQuality
SIO_000300: 5.427e1

GenotypeQuality
all individuals: 560
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61025409809668e-5
allele num: 62102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7746
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 5.831e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.261e1

VQSLOD
type: SiteQuality
SIO_000300: -2.319e0

DP
type: SiteQuality
SIO_000300: 1.451534e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63250
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.109481915933529e-5
allele num: 16368
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7942
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.520815e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.162e0

FS
type: SiteQuality
SIO_000300: 4.419e0

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

QD
type: SiteQuality
SIO_000300: 1.569e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.866e-1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64032
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.973438621679828e-5
allele num: 11144
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.89e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.712e0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 1.564319e6

QD
type: SiteQuality
SIO_000300: 6.93e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8017
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.972e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.586672e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -7.45e-1

FS
type: SiteQuality
SIO_000300: 7.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.187e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.505e0

QD
type: SiteQuality
SIO_000300: 1.455e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 292
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 286
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.050640634533252e-5
allele num: 65560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.561e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.51e-1

FS
type: SiteQuality
SIO_000300: 4.744e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

DP
type: SiteQuality
SIO_000300: 1.626691e6

QD
type: SiteQuality
SIO_000300: 1.232e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512538947877908e-5
allele num: 66114
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

FS
type: SiteQuality
SIO_000300: 4.606e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.386e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.145e0

DP
type: SiteQuality
SIO_000300: 1.645538e6

VQSLOD
type: SiteQuality
SIO_000300: 6.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 143
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 193
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variant carriers: 0

GenotypeQuality
all individuals: 1779
bin: 9.75e1
variant carriers: 15

Other
type: Population
allele count: 2
allele frequency: 2.217294900221729e-3
allele num: 902
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: 8486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510847887834653e-5
allele num: 66188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.276255154014067e-4
allele num: 16492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.464e0

DP
type: SiteQuality
SIO_000300: 1.64959e6

FS
type: SiteQuality
SIO_000300: 1.124e0

MQ
type: SiteQuality
SIO_000300: 5.446e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.811e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 2.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

GenotypeQuality
all individuals: 625
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 143
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 37719
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 954
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GenotypeQuality
all individuals: 2104
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510847887834653e-5
allele num: 66188
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.811e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

FS
type: SiteQuality
SIO_000300: 1.124e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

MQ
type: SiteQuality
SIO_000300: 5.446e1

DP
type: SiteQuality
SIO_000300: 1.64959e6

MQRankSum
type: SiteQuality
SIO_000300: -3.464e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 2.07e0

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

GenotypeQuality
all individuals: 415
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 970
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506387081224391e-5
allele num: 66384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.654143e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.351e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.704e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.944e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.787e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.95e-1

DP
type: SiteQuality
SIO_000300: 1.656624e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 884
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
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: 904
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.558e1

MQRankSum
type: SiteQuality
SIO_000300: -8.78e-1

FS
type: SiteQuality
SIO_000300: 6.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.158e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: -4.511e-1

DP
type: SiteQuality
SIO_000300: 1.662254e6

GenotypeQuality
all individuals: 48
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GenotypeQuality
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GenotypeQuality
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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: 38588
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1779
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 28
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GenotypeQuality
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GenotypeQuality
all individuals: 3396
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variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.00943481265587e-5
allele num: 66562
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 904
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.942e0

DP
type: SiteQuality
SIO_000300: 1.662489e6

QD
type: SiteQuality
SIO_000300: 1.229e1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

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

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
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: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
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: 11566
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

DP
type: SiteQuality
SIO_000300: 1.662494e6

QD
type: SiteQuality
SIO_000300: 1.706e1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 3.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.122e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 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

South Asian
type: Population
allele count: 10
allele frequency: 6.056201550387597e-4
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
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: 10380
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.71e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

QD
type: SiteQuality
SIO_000300: 1.383e1

DP
type: SiteQuality
SIO_000300: 1.662964e6

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.662621e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.274e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

FS
type: SiteQuality
SIO_000300: 3.287e0

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3398
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variant carriers: 0

GenotypeQuality
all individuals: 3621
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003724618526973e-5
allele num: 66584
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 10382
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

FS
type: SiteQuality
SIO_000300: 7.498e0

QD
type: SiteQuality
SIO_000300: 1.266e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.663578e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

QD
type: SiteQuality
SIO_000300: 1.282e1

DP
type: SiteQuality
SIO_000300: 1.663833e6

FS
type: SiteQuality
SIO_000300: 1.209e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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: 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: 10

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: 66598
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 10
allele frequency: 9.63020030816641e-4
allele num: 10384
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.131e0

MQ
type: SiteQuality
SIO_000300: 5.882e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

DP
type: SiteQuality
SIO_000300: 1.664299e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

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

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.002371873780286e-5
allele num: 66614
num of homozygotes: 0

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

Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.306e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.914e1

QD
type: SiteQuality
SIO_000300: 1.528e1

FS
type: SiteQuality
SIO_000300: 4.006e0

DP
type: SiteQuality
SIO_000300: 1.663995e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 888
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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: 16512
num of homozygotes: 0

African
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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
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.663746e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8931
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.945e0

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQ
type: SiteQuality
SIO_000300: 5.917e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

DP
type: SiteQuality
SIO_000300: 1.663746e6

QD
type: SiteQuality
SIO_000300: 1.171e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

GenotypeQuality
all individuals: 155
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.74e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-3

DP
type: SiteQuality
SIO_000300: 1.663478e6

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

FS
type: SiteQuality
SIO_000300: 2.494e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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: 66588
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

MQ
type: SiteQuality
SIO_000300: 5.823e1

QD
type: SiteQuality
SIO_000300: 1.222e1

VQSLOD
type: SiteQuality
SIO_000300: -1.439e0

FS
type: SiteQuality
SIO_000300: 7.001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

DP
type: SiteQuality
SIO_000300: 1.663383e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.349e0

GenotypeQuality
all individuals: 161
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variant carriers: 0

GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.508860455337298e-5
allele num: 66588
num of homozygotes: 0

African
type: Population
allele count: 20
allele frequency: 1.926782273603083e-3
allele num: 10380
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.665109e6

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.61e-1

FS
type: SiteQuality
SIO_000300: 5.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.68e-2

QD
type: SiteQuality
SIO_000300: 1.251e1

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

FS
type: SiteQuality
SIO_000300: 9.539e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.663545e6

QD
type: SiteQuality
SIO_000300: 1.083e1

VQSLOD
type: SiteQuality
SIO_000300: -6.468e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2155
bin: 9.75e1
variant carriers: 411

GenotypeQuality
all individuals: 2118
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 159
allele frequency: 2.403991533111581e-2
allele num: 6614
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 237
allele frequency: 3.560590126498603e-3
allele num: 66562
num of homozygotes: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 7.71158665895508e-4
allele num: 10374
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.518763796909493e-3
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

DP
type: SiteQuality
SIO_000300: 1.694245e6

VQSLOD
type: SiteQuality
SIO_000300: 5.93e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 988
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 899
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 8652
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-2

FS
type: SiteQuality
SIO_000300: 8.169999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.251e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.74e-1

DP
type: SiteQuality
SIO_000300: 1.665062e6

QD
type: SiteQuality
SIO_000300: 1.457e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 38336
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.201995312218282e-4
allele num: 66556
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
type: Population
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: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.665176e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.143e0

QD
type: SiteQuality
SIO_000300: 1.138e1

GenotypeQuality
all individuals: 203
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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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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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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QD
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MQ
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

Other
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allele 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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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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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: 66548
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East Asian
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InbreedingCoeff
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FS
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QD
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VQSLOD
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DP
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ClippingRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

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

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele num: 8652
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South Asian
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Latino
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 1.126e0

ReadPosRankSum
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SIO_000300: 1.8e0

InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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MQ
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SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

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

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

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

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

Other
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.66443e6

ReadPosRankSum
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ClippingRankSum
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

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

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

African
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Other
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East Asian
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ClippingRankSum
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DP
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
type: SiteQuality
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FS
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BaseQRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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Other
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South Asian
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African
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allele frequency: 1.061776061776062e-3
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European (Non-Finnish)
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allele count: 0
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BaseQRankSum
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DP
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VQSLOD
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

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

Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQ
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FS
type: SiteQuality
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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QD
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