2-233656147-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233656147
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233656147
    reference: chr 2
allele count: 3
allele frequency: 2.749670039595249e-5
allele num: 109104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1273A>G
  hgvsp: ENSP00000362664.4:p.Arg425Gly
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1339A>G
  hgvsp: ENSP00000386765.1:p.Arg447Gly
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1273A>G
  hgvsp: ENSP00000386537.1:p.Arg425Gly
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1102A>G
  hgvsp: ENSP00000404195.1:p.Arg368Gly
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.766A>G
  hgvsp: ENSP00000411505.2:p.Arg256Gly
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1255A>G
  hgvsp: ENSP00000387070.3:p.Arg419Gly
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1336A>G
  hgvsp: ENSP00000387170.3:p.Arg446Gly
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1255A>G
  hgvsp: ENSP00000410297.1:p.Arg419Gly
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1339A>G
  hgvsp: ENSP00000362667.3:p.Arg447Gly
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*266A>G
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10578
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg446Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-233656148-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233656148
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233656148
    reference: chr 2
allele count: 3
allele frequency: 2.764773104287241e-5
allele num: 108508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1256G>C
  hgvsp: ENSP00000387070.3:p.Arg419Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1274G>C
  hgvsp: ENSP00000386537.1:p.Arg425Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.767G>C
  hgvsp: ENSP00000411505.2:p.Arg256Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1274G>C
  hgvsp: ENSP00000362664.4:p.Arg425Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1340G>C
  hgvsp: ENSP00000386765.1:p.Arg447Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1103G>C
  hgvsp: ENSP00000404195.1:p.Arg368Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1337G>C
  hgvsp: ENSP00000387170.3:p.Arg446Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*267G>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1256G>C
  hgvsp: ENSP00000410297.1:p.Arg419Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1340G>C
  hgvsp: ENSP00000362667.3:p.Arg447Thr
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21168
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg446Thr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

2-233656152-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233656152
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233656152
    reference: chr 2
allele count: 1
allele frequency: 9.423116790109497e-6
allele num: 106122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1278G>T
  hgvsp: ENST00000373563.4:c.1278G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1278G>T
  hgvsp: ENST00000409547.1:c.1278G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1341G>T
  hgvsp: ENST00000409451.3:c.1341G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*271G>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1344G>T
  hgvsp: ENST00000409480.1:c.1344G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1260G>T
  hgvsp: ENST00000440945.1:c.1260G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1107G>T
  hgvsp: ENST00000423659.1:c.1107G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1260G>T
  hgvsp: ENST00000409196.3:c.1260G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.771G>T
  hgvsp: ENST00000452341.2:c.771G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1344G>T
  hgvsp: ENST00000373566.3:c.1344G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly447Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-233656168-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233656168
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233656168
    reference: chr 2
allele count: 1
allele frequency: 1.031289317905245e-5
allele num: 96966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1348+12T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*275+12T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1264+12T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1111+12T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.775+12T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1282+12T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1282+12T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1348+12T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1264+12T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1345+12T>C
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10448
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15586
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-233656175-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233656175
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233656175
    reference: chr 2
allele count: 5
allele frequency: 5.406925189783074e-5
allele num: 92474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.775+19A>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1348+19A>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1264+19A>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1282+19A>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*275+19A>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1348+19A>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1264+19A>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1282+19A>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1345+19A>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1111+19A>T
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22107
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-233656176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233656176
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233656176
    reference: chr 2
allele count: 1
allele frequency: 1.084222395697805e-5
allele num: 92232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1264+20G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1348+20G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1282+20G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1282+20G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1264+20G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1348+20G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1345+20G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*275+20G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1111+20G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.775+20G>A
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22116
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-233656187-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233656187
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233656187
    reference: chr 2
allele count: 1
allele frequency: 1.176110836685249e-5
allele num: 85026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1264+31A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1345+31A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1282+31A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*275+31A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1348+31A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1282+31A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1264+31A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1111+31A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.775+31A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1348+31A>G
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-233656202-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233656202
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233656202
    reference: chr 2
allele count: 63
allele frequency: 8.661460624725033e-4
allele num: 72736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1264+46G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1111+46G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*275+46G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1264+46G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1348+46G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1345+46G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1282+46G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1348+46G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1282+46G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.775+46G>A
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19343
  bin: 7.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17891
  bin: 1.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4945
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 2
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

2-233656204-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233656204
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233656204
    reference: chr 2
allele count: 1
allele frequency: 1.411472448057814e-5
allele num: 70848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.775+48C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1264+48C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*275+48C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1111+48C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1348+48C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1345+48C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1282+48C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1264+48C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1282+48C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1348+48C>T
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17359
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

2-233659409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659409
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659409
    reference: chr 2
allele count: 125
allele frequency: 1.031676598273386e-3
allele num: 121162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1349-49C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1265-49C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1349-49C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1283-49C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1112-49C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1283-49C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*276-49C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1346-49C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.776-49C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1265-49C>T
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 9.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-233659414-GTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659414
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659412
    reference: chr 2
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1283-40_1283-39delCT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1265-40_1265-39delCT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1112-40_1112-39delCT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1346-40_1346-39delCT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1265-40_1265-39delCT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1349-40_1349-39delCT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1283-40_1283-39delCT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.776-40_776-39delCT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*276-40_*276-39delCT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1349-40_1349-39delCT
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: GTC
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

2-233659418-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659418
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659416
    reference: chr 2
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1283-38_1283-37delGT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1349-38_1349-37delGT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*276-38_*276-37delGT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.776-38_776-37delGT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1283-38_1283-37delGT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1349-38_1349-37delGT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1346-38_1346-37delGT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1265-38_1265-37delGT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1265-38_1265-37delGT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1112-38_1112-37delGT
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: CTG
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

2-233659431-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659431
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659431
    reference: chr 2
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1265-27G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.776-27G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1349-27G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1265-27G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1283-27G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1283-27G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1349-27G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1346-27G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*276-27G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1112-27G>A
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-233659436-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659436
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659436
    reference: chr 2
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.776-22T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1346-22T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1283-22T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1283-22T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1349-22T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1265-22T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*276-22T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1265-22T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1112-22T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1349-22T>C
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4507
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-233659443-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659443
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659444
    reference: chr 2
allele count: 12
allele frequency: 9.893480196550473e-5
allele num: 121292
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1349-9dupT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1112-9dupT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*276-9dupT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1283-9dupT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1346-9dupT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1349-9dupT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1265-9dupT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1283-9dupT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1265-9dupT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.776-9dupT
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

2-233659443-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659443
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659442
    reference: chr 2
allele count: 2
allele frequency: 1.648913366091746e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*276-9delT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1346-9delT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1265-9delT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1283-9delT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1349-9delT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1265-9delT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1283-9delT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.776-9delT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1349-9delT
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1112-9delT
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: AT
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS

2-233659445-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659445
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659445
    reference: chr 2
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1349-13T>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1346-13T>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*276-13T>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1349-13T>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1283-13T>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1265-13T>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1112-13T>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.776-13T>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1283-13T>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1265-13T>A
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43012
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-233659445-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659445
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659445
    reference: chr 2
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.776-13T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1283-13T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1283-13T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1346-13T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1349-13T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1265-13T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1349-13T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*276-13T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1112-13T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1265-13T>C
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43012
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-233659449-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659449
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659449
    reference: chr 2
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1112-9T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1349-9T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1283-9T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1265-9T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1349-9T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1265-9T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1346-9T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1283-9T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*276-9T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.776-9T>C
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

2-233659449-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659449
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659448
    reference: chr 2
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1265-4delC
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1112-4delC
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*276-4delC
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1349-4delC
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1349-4delC
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1346-4delC
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1283-4delC
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.776-4delC
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1265-4delC
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1283-4delC
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1346-4delC
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: TC
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-233659458-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659458
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659458
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1265A>G
  hgvsp: ENSP00000410297.1:p.Glu422Gly
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1283A>G
  hgvsp: ENSP00000362664.4:p.Glu428Gly
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1346A>G
  hgvsp: ENSP00000387170.3:p.Glu449Gly
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*276A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1283A>G
  hgvsp: ENSP00000386537.1:p.Glu428Gly
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.776A>G
  hgvsp: ENSP00000411505.2:p.Glu259Gly
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1265A>G
  hgvsp: ENSP00000387070.3:p.Glu422Gly
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1349A>G
  hgvsp: ENSP00000362667.3:p.Glu450Gly
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1112A>G
  hgvsp: ENSP00000404195.1:p.Glu371Gly
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1349A>G
  hgvsp: ENSP00000386765.1:p.Glu450Gly
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu449Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

2-233659488-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659488
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659488
    reference: chr 2
allele count: 13
allele frequency: 1.07073435904194e-4
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1379C>T
  hgvsp: ENSP00000362667.3:p.Ser460Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1313C>T
  hgvsp: ENSP00000362664.4:p.Ser438Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1376C>T
  hgvsp: ENSP00000387170.3:p.Ser459Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1295C>T
  hgvsp: ENSP00000410297.1:p.Ser432Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1313C>T
  hgvsp: ENSP00000386537.1:p.Ser438Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1142C>T
  hgvsp: ENSP00000404195.1:p.Ser381Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1379C>T
  hgvsp: ENSP00000386765.1:p.Ser460Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1295C>T
  hgvsp: ENSP00000387070.3:p.Ser432Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*306C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.806C>T
  hgvsp: ENSP00000411505.2:p.Ser269Leu
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser459Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-233659489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659489
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659489
    reference: chr 2
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1380G>A
  hgvsp: ENST00000409480.1:c.1380G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.807G>A
  hgvsp: ENST00000452341.2:c.807G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1314G>A
  hgvsp: ENST00000373563.4:c.1314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1143G>A
  hgvsp: ENST00000423659.1:c.1143G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1296G>A
  hgvsp: ENST00000440945.1:c.1296G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1377G>A
  hgvsp: ENST00000409451.3:c.1377G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1296G>A
  hgvsp: ENST00000409196.3:c.1296G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*307G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1380G>A
  hgvsp: ENST00000373566.3:c.1380G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1314G>A
  hgvsp: ENST00000409547.1:c.1314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser459Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-233659489-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659489
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659489
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1296G>T
  hgvsp: ENST00000409196.3:c.1296G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1380G>T
  hgvsp: ENST00000373566.3:c.1380G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1314G>T
  hgvsp: ENST00000373563.4:c.1314G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1377G>T
  hgvsp: ENST00000409451.3:c.1377G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*307G>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1143G>T
  hgvsp: ENST00000423659.1:c.1143G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1314G>T
  hgvsp: ENST00000409547.1:c.1314G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1380G>T
  hgvsp: ENST00000409480.1:c.1380G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1296G>T
  hgvsp: ENST00000440945.1:c.1296G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.807G>T
  hgvsp: ENST00000452341.2:c.807G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser459Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

2-233659492-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659492
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659492
    reference: chr 2
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1146G>A
  hgvsp: ENST00000423659.1:c.1146G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1383G>A
  hgvsp: ENST00000373566.3:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1317G>A
  hgvsp: ENST00000409547.1:c.1317G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*310G>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1383G>A
  hgvsp: ENST00000409480.1:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1317G>A
  hgvsp: ENST00000373563.4:c.1317G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.810G>A
  hgvsp: ENST00000452341.2:c.810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1380G>A
  hgvsp: ENST00000409451.3:c.1380G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1299G>A
  hgvsp: ENST00000440945.1:c.1299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1299G>A
  hgvsp: ENST00000409196.3:c.1299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln460Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

2-233659492-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659492
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659492
    reference: chr 2
allele count: 11
allele frequency: 9.060059961124106e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.810G>C
  hgvsp: ENSP00000411505.2:p.Gln270His
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1146G>C
  hgvsp: ENSP00000404195.1:p.Gln382His
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1299G>C
  hgvsp: ENSP00000410297.1:p.Gln433His
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*310G>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1299G>C
  hgvsp: ENSP00000387070.3:p.Gln433His
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1383G>C
  hgvsp: ENSP00000362667.3:p.Gln461His
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1380G>C
  hgvsp: ENSP00000387170.3:p.Gln460His
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1317G>C
  hgvsp: ENSP00000386537.1:p.Gln439His
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1317G>C
  hgvsp: ENSP00000362664.4:p.Gln439His
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1383G>C
  hgvsp: ENSP00000386765.1:p.Gln461His
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln460His
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff

2-233659493-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659493
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659493
    reference: chr 2
allele count: 9
allele frequency: 7.412776331828814e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1318A>G
  hgvsp: ENSP00000386537.1:p.Ile440Val
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.811A>G
  hgvsp: ENSP00000411505.2:p.Ile271Val
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1318A>G
  hgvsp: ENSP00000362664.4:p.Ile440Val
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1384A>G
  hgvsp: ENSP00000362667.3:p.Ile462Val
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1147A>G
  hgvsp: ENSP00000404195.1:p.Ile383Val
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1300A>G
  hgvsp: ENSP00000387070.3:p.Ile434Val
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*311A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1300A>G
  hgvsp: ENSP00000410297.1:p.Ile434Val
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1384A>G
  hgvsp: ENSP00000386765.1:p.Ile462Val
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1381A>G
  hgvsp: ENSP00000387170.3:p.Ile461Val
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile461Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-233659496-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659496
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659496
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1387C>G
  hgvsp: ENSP00000362667.3:p.Pro463Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1384C>G
  hgvsp: ENSP00000387170.3:p.Pro462Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1387C>G
  hgvsp: ENSP00000386765.1:p.Pro463Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1303C>G
  hgvsp: ENSP00000387070.3:p.Pro435Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.814C>G
  hgvsp: ENSP00000411505.2:p.Pro272Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1150C>G
  hgvsp: ENSP00000404195.1:p.Pro384Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1321C>G
  hgvsp: ENSP00000362664.4:p.Pro441Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1321C>G
  hgvsp: ENSP00000386537.1:p.Pro441Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1303C>G
  hgvsp: ENSP00000410297.1:p.Pro435Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000389322
  ensembl transcript: ENST00000458528
  gene symbol: GIGYF2
  hgvsc: ENST00000458528.1:c.*314C>G
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7322
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro462Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

2-233659512-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659512
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659512
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1403C>G
  hgvsp: ENSP00000362667.3:p.Ser468Cys
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1337C>G
  hgvsp: ENSP00000362664.4:p.Ser446Cys
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.830C>G
  hgvsp: ENSP00000411505.2:p.Ser277Cys
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1319C>G
  hgvsp: ENSP00000387070.3:p.Ser440Cys
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1337C>G
  hgvsp: ENSP00000386537.1:p.Ser446Cys
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1400C>G
  hgvsp: ENSP00000387170.3:p.Ser467Cys
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1319C>G
  hgvsp: ENSP00000410297.1:p.Ser440Cys
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1403C>G
  hgvsp: ENSP00000386765.1:p.Ser468Cys
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1166C>G
  hgvsp: ENSP00000404195.1:p.Ser389Cys
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7322
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser467Cys
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/2-233659514-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659514
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659514
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1321C>A
  hgvsp: ENSP00000410297.1:p.Pro441Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1339C>A
  hgvsp: ENSP00000386537.1:p.Pro447Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1168C>A
  hgvsp: ENSP00000404195.1:p.Pro390Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.832C>A
  hgvsp: ENSP00000411505.2:p.Pro278Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1339C>A
  hgvsp: ENSP00000362664.4:p.Pro447Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1405C>A
  hgvsp: ENSP00000386765.1:p.Pro469Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1405C>A
  hgvsp: ENSP00000362667.3:p.Pro469Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1321C>A
  hgvsp: ENSP00000387070.3:p.Pro441Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1402C>A
  hgvsp: ENSP00000387170.3:p.Pro468Thr
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro468Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-233659518-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659518
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659518
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1343T>C
  hgvsp: ENSP00000362664.4:p.Leu448Pro
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1409T>C
  hgvsp: ENSP00000386765.1:p.Leu470Pro
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.836T>C
  hgvsp: ENSP00000411505.2:p.Leu279Pro
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1325T>C
  hgvsp: ENSP00000410297.1:p.Leu442Pro
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1343T>C
  hgvsp: ENSP00000386537.1:p.Leu448Pro
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1325T>C
  hgvsp: ENSP00000387070.3:p.Leu442Pro
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1172T>C
  hgvsp: ENSP00000404195.1:p.Leu391Pro
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1406T>C
  hgvsp: ENSP00000387170.3:p.Leu469Pro
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1409T>C
  hgvsp: ENSP00000362667.3:p.Leu470Pro
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu469Pro
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-233659523-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659523
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659523
    reference: chr 2
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1177A>T
  hgvsp: ENSP00000404195.1:p.Ile393Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1348A>T
  hgvsp: ENSP00000362664.4:p.Ile450Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1414A>T
  hgvsp: ENSP00000386765.1:p.Ile472Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1348A>T
  hgvsp: ENSP00000386537.1:p.Ile450Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1330A>T
  hgvsp: ENSP00000410297.1:p.Ile444Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1414A>T
  hgvsp: ENSP00000362667.3:p.Ile472Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.841A>T
  hgvsp: ENSP00000411505.2:p.Ile281Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1330A>T
  hgvsp: ENSP00000387070.3:p.Ile444Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1411A>T
  hgvsp: ENSP00000387170.3:p.Ile471Leu
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile471Leu
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-233659526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659526
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659526
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1414C>T
  hgvsp: ENSP00000387170.3:p.Leu472Phe
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1417C>T
  hgvsp: ENSP00000362667.3:p.Leu473Phe
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1333C>T
  hgvsp: ENSP00000410297.1:p.Leu445Phe
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1417C>T
  hgvsp: ENSP00000386765.1:p.Leu473Phe
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1180C>T
  hgvsp: ENSP00000404195.1:p.Leu394Phe
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1351C>T
  hgvsp: ENSP00000362664.4:p.Leu451Phe
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.844C>T
  hgvsp: ENSP00000411505.2:p.Leu282Phe
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1351C>T
  hgvsp: ENSP00000386537.1:p.Leu451Phe
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1333C>T
  hgvsp: ENSP00000387070.3:p.Leu445Phe
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu472Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-233659529-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659529
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659529
    reference: chr 2
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1183C>G
  hgvsp: ENSP00000404195.1:p.Pro395Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1420C>G
  hgvsp: ENSP00000386765.1:p.Pro474Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.847C>G
  hgvsp: ENSP00000411505.2:p.Pro283Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1417C>G
  hgvsp: ENSP00000387170.3:p.Pro473Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1336C>G
  hgvsp: ENSP00000387070.3:p.Pro446Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1420C>G
  hgvsp: ENSP00000362667.3:p.Pro474Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1336C>G
  hgvsp: ENSP00000410297.1:p.Pro446Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1354C>G
  hgvsp: ENSP00000386537.1:p.Pro452Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1354C>G
  hgvsp: ENSP00000362664.4:p.Pro452Ala
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro473Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

2-233659532-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659532
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659532
    reference: chr 2
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1420C>T
  hgvsp: ENSP00000387170.3:p.Pro474Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1357C>T
  hgvsp: ENSP00000386537.1:p.Pro453Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1423C>T
  hgvsp: ENSP00000386765.1:p.Pro475Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.850C>T
  hgvsp: ENSP00000411505.2:p.Pro284Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1339C>T
  hgvsp: ENSP00000410297.1:p.Pro447Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1357C>T
  hgvsp: ENSP00000362664.4:p.Pro453Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1186C>T
  hgvsp: ENSP00000404195.1:p.Pro396Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1339C>T
  hgvsp: ENSP00000387070.3:p.Pro447Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1423C>T
  hgvsp: ENSP00000362667.3:p.Pro475Ser
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro474Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

2-233659533-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659533
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1187C>T
  hgvsp: ENSP00000404195.1:p.Pro396Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1340C>T
  hgvsp: ENSP00000387070.3:p.Pro447Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.851C>T
  hgvsp: ENSP00000411505.2:p.Pro284Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1340C>T
  hgvsp: ENSP00000410297.1:p.Pro447Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1358C>T
  hgvsp: ENSP00000386537.1:p.Pro453Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1421C>T
  hgvsp: ENSP00000387170.3:p.Pro474Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1424C>T
  hgvsp: ENSP00000386765.1:p.Pro475Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1424C>T
  hgvsp: ENSP00000362667.3:p.Pro475Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1358C>T
  hgvsp: ENSP00000362664.4:p.Pro453Leu
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4635
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro474Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-233659541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659541
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659541
    reference: chr 2
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1429C>T
  hgvsp: ENSP00000387170.3:p.Pro477Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1366C>T
  hgvsp: ENSP00000362664.4:p.Pro456Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1348C>T
  hgvsp: ENSP00000410297.1:p.Pro450Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1432C>T
  hgvsp: ENSP00000386765.1:p.Pro478Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1366C>T
  hgvsp: ENSP00000386537.1:p.Pro456Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.859C>T
  hgvsp: ENSP00000411505.2:p.Pro287Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1432C>T
  hgvsp: ENSP00000362667.3:p.Pro478Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1195C>T
  hgvsp: ENSP00000404195.1:p.Pro399Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1348C>T
  hgvsp: ENSP00000387070.3:p.Pro450Ser
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7322
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro477Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

2-233659542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659542
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659542
    reference: chr 2
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1367C>T
  hgvsp: ENSP00000362664.4:p.Pro456Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1349C>T
  hgvsp: ENSP00000410297.1:p.Pro450Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1433C>T
  hgvsp: ENSP00000386765.1:p.Pro478Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1433C>T
  hgvsp: ENSP00000362667.3:p.Pro478Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1430C>T
  hgvsp: ENSP00000387170.3:p.Pro477Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1367C>T
  hgvsp: ENSP00000386537.1:p.Pro456Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.860C>T
  hgvsp: ENSP00000411505.2:p.Pro287Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1349C>T
  hgvsp: ENSP00000387070.3:p.Pro450Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1196C>T
  hgvsp: ENSP00000404195.1:p.Pro399Leu
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro477Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/2-233659545-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659545
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659545
    reference: chr 2
allele count: 47
allele frequency: 3.872519939357985e-4
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1352A>C
  hgvsp: ENSP00000410297.1:p.Asn451Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1436A>C
  hgvsp: ENSP00000386765.1:p.Asn479Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1370A>C
  hgvsp: ENSP00000386537.1:p.Asn457Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1433A>C
  hgvsp: ENSP00000387170.3:p.Asn478Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.863A>C
  hgvsp: ENSP00000411505.2:p.Asn288Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1199A>C
  hgvsp: ENSP00000404195.1:p.Asn400Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1370A>C
  hgvsp: ENSP00000362664.4:p.Asn457Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1352A>C
  hgvsp: ENSP00000387070.3:p.Asn451Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1436A>C
  hgvsp: ENSP00000362667.3:p.Asn479Thr
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn478Thr
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-233659545-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659545
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659545
    reference: chr 2
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1370A>G
  hgvsp: ENSP00000386537.1:p.Asn457Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1370A>G
  hgvsp: ENSP00000362664.4:p.Asn457Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.863A>G
  hgvsp: ENSP00000411505.2:p.Asn288Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1436A>G
  hgvsp: ENSP00000362667.3:p.Asn479Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1436A>G
  hgvsp: ENSP00000386765.1:p.Asn479Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1433A>G
  hgvsp: ENSP00000387170.3:p.Asn478Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1352A>G
  hgvsp: ENSP00000410297.1:p.Asn451Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1352A>G
  hgvsp: ENSP00000387070.3:p.Asn451Ser
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1199A>G
  hgvsp: ENSP00000404195.1:p.Asn400Ser
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn478Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-233659549-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659549
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659549
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1440T>C
  hgvsp: ENST00000409480.1:c.1440T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1356T>C
  hgvsp: ENST00000409196.3:c.1356T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1374T>C
  hgvsp: ENST00000373563.4:c.1374T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1437T>C
  hgvsp: ENST00000409451.3:c.1437T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.867T>C
  hgvsp: ENST00000452341.2:c.867T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1356T>C
  hgvsp: ENST00000440945.1:c.1356T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1374T>C
  hgvsp: ENST00000409547.1:c.1374T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1440T>C
  hgvsp: ENST00000373566.3:c.1440T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1203T>C
  hgvsp: ENST00000423659.1:c.1203T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6608
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42997
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro479Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/2-233659553-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659553
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659553
    reference: chr 2
allele count: 6358
allele frequency: 5.23775002471414e-2
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1378C>A
  hgvsp: ENSP00000362664.4:p.Pro460Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.871C>A
  hgvsp: ENSP00000411505.2:p.Pro291Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1378C>A
  hgvsp: ENSP00000386537.1:p.Pro460Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1360C>A
  hgvsp: ENSP00000410297.1:p.Pro454Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1360C>A
  hgvsp: ENSP00000387070.3:p.Pro454Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1444C>A
  hgvsp: ENSP00000362667.3:p.Pro482Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1444C>A
  hgvsp: ENSP00000386765.1:p.Pro482Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1207C>A
  hgvsp: ENSP00000404195.1:p.Pro403Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1441C>A
  hgvsp: ENSP00000387170.3:p.Pro481Thr
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 8.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 8.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7933
  bin: 9.75e1
  variant carriers: 5652
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 7.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 9.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 7.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 6.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 6.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 5.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro481Thr
num of homozygotes: 391
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-233659554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659554
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659554
    reference: chr 2
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1445C>T
  hgvsp: ENSP00000386765.1:p.Pro482Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1379C>T
  hgvsp: ENSP00000386537.1:p.Pro460Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1379C>T
  hgvsp: ENSP00000362664.4:p.Pro460Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1361C>T
  hgvsp: ENSP00000387070.3:p.Pro454Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1208C>T
  hgvsp: ENSP00000404195.1:p.Pro403Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.872C>T
  hgvsp: ENSP00000411505.2:p.Pro291Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1361C>T
  hgvsp: ENSP00000410297.1:p.Pro454Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1445C>T
  hgvsp: ENSP00000362667.3:p.Pro482Leu
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1442C>T
  hgvsp: ENSP00000387170.3:p.Pro481Leu
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro481Leu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

2-233659556-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659556
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659556
    reference: chr 2
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.874A>G
  hgvsp: ENSP00000411505.2:p.Thr292Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1381A>G
  hgvsp: ENSP00000386537.1:p.Thr461Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1447A>G
  hgvsp: ENSP00000386765.1:p.Thr483Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1363A>G
  hgvsp: ENSP00000410297.1:p.Thr455Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1444A>G
  hgvsp: ENSP00000387170.3:p.Thr482Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1363A>G
  hgvsp: ENSP00000387070.3:p.Thr455Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1381A>G
  hgvsp: ENSP00000362664.4:p.Thr461Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1447A>G
  hgvsp: ENSP00000362667.3:p.Thr483Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1210A>G
  hgvsp: ENSP00000404195.1:p.Thr404Ala
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr482Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-233659558-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659558
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659558
    reference: chr 2
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1365T>C
  hgvsp: ENST00000440945.1:c.1365T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1383T>C
  hgvsp: ENST00000409547.1:c.1383T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1365T>C
  hgvsp: ENST00000409196.3:c.1365T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1449T>C
  hgvsp: ENST00000409480.1:c.1449T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1449T>C
  hgvsp: ENST00000373566.3:c.1449T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1446T>C
  hgvsp: ENST00000409451.3:c.1446T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1383T>C
  hgvsp: ENST00000373563.4:c.1383T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.876T>C
  hgvsp: ENST00000452341.2:c.876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1212T>C
  hgvsp: ENST00000423659.1:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr482Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

2-233659559-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659559
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659559
    reference: chr 2
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1366C>T
  hgvsp: ENSP00000410297.1:p.Leu456Phe
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1384C>T
  hgvsp: ENSP00000386537.1:p.Leu462Phe
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1450C>T
  hgvsp: ENSP00000362667.3:p.Leu484Phe
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1384C>T
  hgvsp: ENSP00000362664.4:p.Leu462Phe
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1447C>T
  hgvsp: ENSP00000387170.3:p.Leu483Phe
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1213C>T
  hgvsp: ENSP00000404195.1:p.Leu405Phe
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1366C>T
  hgvsp: ENSP00000387070.3:p.Leu456Phe
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.877C>T
  hgvsp: ENSP00000411505.2:p.Leu293Phe
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1450C>T
  hgvsp: ENSP00000386765.1:p.Leu484Phe
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu483Phe
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

2-233659562-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659562
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659562
    reference: chr 2
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1387C>T
  hgvsp: ENSP00000386537.1:p.Arg463Trp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1453C>T
  hgvsp: ENSP00000362667.3:p.Arg485Trp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1216C>T
  hgvsp: ENSP00000404195.1:p.Arg406Trp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1369C>T
  hgvsp: ENSP00000387070.3:p.Arg457Trp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1453C>T
  hgvsp: ENSP00000386765.1:p.Arg485Trp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1450C>T
  hgvsp: ENSP00000387170.3:p.Arg484Trp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1387C>T
  hgvsp: ENSP00000362664.4:p.Arg463Trp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.880C>T
  hgvsp: ENSP00000411505.2:p.Arg294Trp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1369C>T
  hgvsp: ENSP00000410297.1:p.Arg457Trp
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg484Trp
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

2-233659563-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659563
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659563
    reference: chr 2
allele count: 14
allele frequency: 1.153573606235889e-4
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.881G>A
  hgvsp: ENSP00000411505.2:p.Arg294Gln
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1388G>A
  hgvsp: ENSP00000362664.4:p.Arg463Gln
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1454G>A
  hgvsp: ENSP00000386765.1:p.Arg485Gln
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1217G>A
  hgvsp: ENSP00000404195.1:p.Arg406Gln
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1451G>A
  hgvsp: ENSP00000387170.3:p.Arg484Gln
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1370G>A
  hgvsp: ENSP00000410297.1:p.Arg457Gln
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1370G>A
  hgvsp: ENSP00000387070.3:p.Arg457Gln
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1454G>A
  hgvsp: ENSP00000362667.3:p.Arg485Gln
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1388G>A
  hgvsp: ENSP00000386537.1:p.Arg463Gln
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg484Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-233659569-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659569
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659569
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1376T>A
  hgvsp: ENSP00000387070.3:p.Val459Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1394T>A
  hgvsp: ENSP00000386537.1:p.Val465Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1223T>A
  hgvsp: ENSP00000404195.1:p.Val408Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1457T>A
  hgvsp: ENSP00000387170.3:p.Val486Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1460T>A
  hgvsp: ENSP00000362667.3:p.Val487Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.887T>A
  hgvsp: ENSP00000411505.2:p.Val296Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1376T>A
  hgvsp: ENSP00000410297.1:p.Val459Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1394T>A
  hgvsp: ENSP00000362664.4:p.Val465Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1460T>A
  hgvsp: ENSP00000386765.1:p.Val487Asp
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41637
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val486Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

2-233659569-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659569
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659569
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.887T>C
  hgvsp: ENSP00000411505.2:p.Val296Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1394T>C
  hgvsp: ENSP00000386537.1:p.Val465Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1223T>C
  hgvsp: ENSP00000404195.1:p.Val408Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1460T>C
  hgvsp: ENSP00000386765.1:p.Val487Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1394T>C
  hgvsp: ENSP00000362664.4:p.Val465Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1460T>C
  hgvsp: ENSP00000362667.3:p.Val487Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1376T>C
  hgvsp: ENSP00000410297.1:p.Val459Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1376T>C
  hgvsp: ENSP00000387070.3:p.Val459Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1457T>C
  hgvsp: ENSP00000387170.3:p.Val486Ala
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val486Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-233659579-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659579
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659579
    reference: chr 2
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1470A>G
  hgvsp: ENST00000373566.3:c.1470A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.897A>G
  hgvsp: ENST00000452341.2:c.897A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1467A>G
  hgvsp: ENST00000409451.3:c.1467A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1470A>G
  hgvsp: ENST00000409480.1:c.1470A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1386A>G
  hgvsp: ENST00000440945.1:c.1386A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1404A>G
  hgvsp: ENST00000373563.4:c.1404A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1404A>G
  hgvsp: ENST00000409547.1:c.1404A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1233A>G
  hgvsp: ENST00000423659.1:c.1233A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1386A>G
  hgvsp: ENST00000409196.3:c.1386A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro489Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

2-233659585-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659585
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659585
    reference: chr 2
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1392A>G
  hgvsp: ENST00000409196.3:c.1392A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1392A>G
  hgvsp: ENST00000440945.1:c.1392A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1410A>G
  hgvsp: ENST00000373563.4:c.1410A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1473A>G
  hgvsp: ENST00000409451.3:c.1473A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1410A>G
  hgvsp: ENST00000409547.1:c.1410A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1476A>G
  hgvsp: ENST00000373566.3:c.1476A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1476A>G
  hgvsp: ENST00000409480.1:c.1476A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.903A>G
  hgvsp: ENST00000452341.2:c.903A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1239A>G
  hgvsp: ENST00000423659.1:c.1239A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val491Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

2-233659589-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659589
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659589
    reference: chr 2
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1414G>C
  hgvsp: ENSP00000362664.4:p.Ala472Pro
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1480G>C
  hgvsp: ENSP00000362667.3:p.Ala494Pro
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1396G>C
  hgvsp: ENSP00000410297.1:p.Ala466Pro
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1480G>C
  hgvsp: ENSP00000386765.1:p.Ala494Pro
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1414G>C
  hgvsp: ENSP00000386537.1:p.Ala472Pro
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.907G>C
  hgvsp: ENSP00000411505.2:p.Ala303Pro
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1477G>C
  hgvsp: ENSP00000387170.3:p.Ala493Pro
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1396G>C
  hgvsp: ENSP00000387070.3:p.Ala466Pro
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1243G>C
  hgvsp: ENSP00000404195.1:p.Ala415Pro
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala493Pro
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-233659594-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659594
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659594
    reference: chr 2
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1485T>A
  hgvsp: ENST00000373566.3:c.1485T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1419T>A
  hgvsp: ENST00000373563.4:c.1419T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1248T>A
  hgvsp: ENST00000423659.1:c.1248T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1401T>A
  hgvsp: ENST00000409196.3:c.1401T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1401T>A
  hgvsp: ENST00000440945.1:c.1401T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1482T>A
  hgvsp: ENST00000409451.3:c.1482T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1485T>A
  hgvsp: ENST00000409480.1:c.1485T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1419T>A
  hgvsp: ENST00000409547.1:c.1419T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.912T>A
  hgvsp: ENST00000452341.2:c.912T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro494Pro
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: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-233659602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659602
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659602
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1493G>A
  hgvsp: ENSP00000362667.3:p.Gly498Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1493G>A
  hgvsp: ENSP00000386765.1:p.Gly498Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1256G>A
  hgvsp: ENSP00000404195.1:p.Gly419Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1409G>A
  hgvsp: ENSP00000387070.3:p.Gly470Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1409G>A
  hgvsp: ENSP00000410297.1:p.Gly470Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1427G>A
  hgvsp: ENSP00000386537.1:p.Gly476Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1427G>A
  hgvsp: ENSP00000362664.4:p.Gly476Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.920G>A
  hgvsp: ENSP00000411505.2:p.Gly307Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1490G>A
  hgvsp: ENSP00000387170.3:p.Gly497Asp
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly497Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

2-233659610-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659610
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659610
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1435T>G
  hgvsp: ENSP00000362664.4:p.Ser479Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1435T>G
  hgvsp: ENSP00000386537.1:p.Ser479Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1264T>G
  hgvsp: ENSP00000404195.1:p.Ser422Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.928T>G
  hgvsp: ENSP00000411505.2:p.Ser310Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1501T>G
  hgvsp: ENSP00000362667.3:p.Ser501Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1417T>G
  hgvsp: ENSP00000410297.1:p.Ser473Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1501T>G
  hgvsp: ENSP00000386765.1:p.Ser501Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1498T>G
  hgvsp: ENSP00000387170.3:p.Ser500Ala
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1417T>G
  hgvsp: ENSP00000387070.3:p.Ser473Ala
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser500Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-233659619-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659619
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659619
    reference: chr 2
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1273C>A
  hgvsp: ENSP00000404195.1:p.Pro425Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1444C>A
  hgvsp: ENSP00000362664.4:p.Pro482Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1444C>A
  hgvsp: ENSP00000386537.1:p.Pro482Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1426C>A
  hgvsp: ENSP00000410297.1:p.Pro476Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1510C>A
  hgvsp: ENSP00000386765.1:p.Pro504Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.937C>A
  hgvsp: ENSP00000411505.2:p.Pro313Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1510C>A
  hgvsp: ENSP00000362667.3:p.Pro504Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1507C>A
  hgvsp: ENSP00000387170.3:p.Pro503Thr
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1426C>A
  hgvsp: ENSP00000387070.3:p.Pro476Thr
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro503Thr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

2-233659630-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659630
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659630
    reference: chr 2
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1437A>G
  hgvsp: ENST00000440945.1:c.1437A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1518A>G
  hgvsp: ENST00000409451.3:c.1518A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.948A>G
  hgvsp: ENST00000452341.2:c.948A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1455A>G
  hgvsp: ENST00000373563.4:c.1455A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1284A>G
  hgvsp: ENST00000423659.1:c.1284A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1455A>G
  hgvsp: ENST00000409547.1:c.1455A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1521A>G
  hgvsp: ENST00000373566.3:c.1521A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1437A>G
  hgvsp: ENST00000409196.3:c.1437A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1521A>G
  hgvsp: ENST00000409480.1:c.1521A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41632
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu506Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

2-233659630-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659630
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659630
    reference: chr 2
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1437A>T
  hgvsp: ENSP00000387070.3:p.Glu479Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1437A>T
  hgvsp: ENSP00000410297.1:p.Glu479Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.948A>T
  hgvsp: ENSP00000411505.2:p.Glu316Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1521A>T
  hgvsp: ENSP00000386765.1:p.Glu507Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1455A>T
  hgvsp: ENSP00000386537.1:p.Glu485Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1518A>T
  hgvsp: ENSP00000387170.3:p.Glu506Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1284A>T
  hgvsp: ENSP00000404195.1:p.Glu428Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1455A>T
  hgvsp: ENSP00000362664.4:p.Glu485Asp
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1521A>T
  hgvsp: ENSP00000362667.3:p.Glu507Asp
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4972
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu506Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

2-233659641-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659641
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659641
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1466A>G
  hgvsp: ENSP00000362664.4:p.Lys489Arg
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1529A>G
  hgvsp: ENSP00000387170.3:p.Lys510Arg
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1448A>G
  hgvsp: ENSP00000410297.1:p.Lys483Arg
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1295A>G
  hgvsp: ENSP00000404195.1:p.Lys432Arg
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1448A>G
  hgvsp: ENSP00000387070.3:p.Lys483Arg
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1466A>G
  hgvsp: ENSP00000386537.1:p.Lys489Arg
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1532A>G
  hgvsp: ENSP00000386765.1:p.Lys511Arg
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.959A>G
  hgvsp: ENSP00000411505.2:p.Lys320Arg
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1532A>G
  hgvsp: ENSP00000362667.3:p.Lys511Arg
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys510Arg
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

2-233659642-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659642
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659642
    reference: chr 2
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.960A>G
  hgvsp: ENST00000452341.2:c.960A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1530A>G
  hgvsp: ENST00000409451.3:c.1530A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1449A>G
  hgvsp: ENST00000440945.1:c.1449A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1533A>G
  hgvsp: ENST00000409480.1:c.1533A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1449A>G
  hgvsp: ENST00000409196.3:c.1449A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1533A>G
  hgvsp: ENST00000373566.3:c.1533A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1467A>G
  hgvsp: ENST00000409547.1:c.1467A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1467A>G
  hgvsp: ENST00000373563.4:c.1467A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1296A>G
  hgvsp: ENST00000423659.1:c.1296A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys510Lys
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-233659656-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659656
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659655
    reference: chr 2
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.972+7delA
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1542+7delA
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1545+7delA
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1461+7delA
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1479+7delA
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1479+7delA
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1461+7delA
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1545+7delA
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1308+7delA
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41629
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1542+7delA
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: TA
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-233659673-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659673
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659673
    reference: chr 2
allele count: 2
allele frequency: 1.649756660892518e-5
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1479+19C>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1461+19C>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.972+19C>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1479+19C>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1461+19C>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1545+19C>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1545+19C>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1308+19C>A
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1542+19C>A
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP

2-233659675-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659675
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659675
    reference: chr 2
allele count: 5
allele frequency: 4.125072188763303e-5
allele num: 121210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1461+21T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1545+21T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.972+21T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1545+21T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1542+21T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1461+21T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1479+21T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1308+21T>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1479+21T>C
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41628
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

2-233659680-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659680
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659677
    reference: chr 2
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1461+30_1461+32delCTC
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1542+30_1542+32delCTC
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1461+30_1461+32delCTC
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1545+30_1545+32delCTC
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1479+30_1479+32delCTC
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1479+30_1479+32delCTC
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.972+30_972+32delCTC
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1545+30_1545+32delCTC
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1308+30_1308+32delCTC
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41629
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4478
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: TCTC
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-233659681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659681
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659681
    reference: chr 2
allele count: 2
allele frequency: 1.650709805216243e-5
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1479+27C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.972+27C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1542+27C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1461+27C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1308+27C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1461+27C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1545+27C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1545+27C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1479+27C>T
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41628
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

2-233659684-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659684
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659684
    reference: chr 2
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1308+30C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1461+30C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1542+30C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1479+30C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.972+30C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1479+30C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1461+30C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1545+30C>T
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1545+30C>T
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

2-233659689-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659689
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659689
    reference: chr 2
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1545+35A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1479+35A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1308+35A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1479+35A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1542+35A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.972+35A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1545+35A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1461+35A>G
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1461+35A>G
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-233659691-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659691
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 233659691
    reference: chr 2
allele count: 2
allele frequency: 1.653357141676174e-5
allele num: 120966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386765
  ensembl transcript: ENST00000409480
  gene symbol: GIGYF2
  hgvsc: ENST00000409480.1:c.1545+37A>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000386537
  ensembl transcript: ENST00000409547
  gene symbol: GIGYF2
  hgvsc: ENST00000409547.1:c.1479+37A>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387170
  ensembl transcript: ENST00000409451
  gene symbol: GIGYF2
  hgvsc: ENST00000409451.3:c.1542+37A>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000411505
  ensembl transcript: ENST00000452341
  gene symbol: GIGYF2
  hgvsc: ENST00000452341.2:c.972+37A>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362667
  ensembl transcript: ENST00000373566
  gene symbol: GIGYF2
  hgvsc: ENST00000373566.3:c.1545+37A>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000410297
  ensembl transcript: ENST00000440945
  gene symbol: GIGYF2
  hgvsc: ENST00000440945.1:c.1461+37A>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000362664
  ensembl transcript: ENST00000373563
  gene symbol: GIGYF2
  hgvsc: ENST00000373563.4:c.1479+37A>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000387070
  ensembl transcript: ENST00000409196
  gene symbol: GIGYF2
  hgvsc: ENST00000409196.3:c.1461+37A>C
  variant of: http://identifiers.org/hgnc/11960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000204120
  ensembl protein: ENSP00000404195
  ensembl transcript: ENST00000423659
  gene symbol: GIGYF2
  hgvsc: ENST00000423659.1:c.1308+37A>C
  variant of: http://identifiers.org/hgnc/11960
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-233659692-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 233659692
    reference: chr 2
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: A
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 288
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6642
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4204
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11494
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31014
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.28515111695138e-4
allele num: 9132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.694e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.584e1

DP
type: SiteQuality
SIO_000300: 1.639137e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.156e0

GenotypeQuality
all individuals: 1310
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12086
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6639
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4148
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30292
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9078
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.321178491214163e-4
allele num: 15138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7452
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.669337606837607e-5
allele num: 59904
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.344e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

FS
type: SiteQuality
SIO_000300: 6.827e0

MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-1

DP
type: SiteQuality
SIO_000300: 1.62625e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

GenotypeQuality
all individuals: 14477
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3678
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27526
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6636
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1570
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8846
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58616
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.695232994108195e-5
allele num: 14936
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.116e0

FS
type: SiteQuality
SIO_000300: 6.119e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
SIO_000300: 5.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 1.106e1

DP
type: SiteQuality
SIO_000300: 1.572486e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-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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GenotypeQuality
all individuals: 1900
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.092198581560284e-5
allele num: 14100
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.831e1

MQRankSum
type: SiteQuality
SIO_000300: -5.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.343409e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.257e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.998e0

QD
type: SiteQuality
SIO_000300: 1.158e1

VQSLOD
type: SiteQuality
SIO_000300: -2.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51170
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

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

African
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allele count: 5
allele frequency: 6.554798112218144e-4
allele num: 7628
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7804
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.241519e6

QD
type: SiteQuality
SIO_000300: 1.03e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

FS
type: SiteQuality
SIO_000300: 7.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.453e0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5834
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.959170878884056e-5
allele num: 51042
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.63e-1

QD
type: SiteQuality
SIO_000300: 1.047e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.276e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

FS
type: SiteQuality
SIO_000300: 6.368e0

DP
type: SiteQuality
SIO_000300: 1.240499e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.122601460349805e-5
allele num: 47112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13028
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.332e-1

FS
type: SiteQuality
SIO_000300: 3.998e0

MQRankSum
type: SiteQuality
SIO_000300: -8.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

QD
type: SiteQuality
SIO_000300: 1.819e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

DP
type: SiteQuality
SIO_000300: 1.139937e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 61

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 342
bin: 8.25e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40144
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 5.85480093676815e-4
allele num: 5124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.312551953449709e-5
allele num: 12030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4072
num of homozygotes: 0

African
type: Population
allele count: 59
allele frequency: 9.787657597876576e-3
allele num: 6028
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

DP
type: SiteQuality
SIO_000300: 1.069172e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.483e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 293
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.55793727937791e-5
allele num: 39094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4820
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
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4628
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: -1.919e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.44e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

DP
type: SiteQuality
SIO_000300: 1.065003e6

MQ
type: SiteQuality
SIO_000300: 5.811e1

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 11
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 125

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
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

East Asian
type: Population
allele count: 123
allele frequency: 1.425591098748261e-2
allele num: 8628
num of homozygotes: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

DP
type: SiteQuality
SIO_000300: 4.026949e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.954e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

FS
type: SiteQuality
SIO_000300: 1.062e0

QD
type: SiteQuality
SIO_000300: 1.379e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 21
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2464
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
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: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

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

Other
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South Asian
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Latino
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European (Non-Finnish)
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allele num: 66696
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African
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East Asian
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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QD
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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Other
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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Latino
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East Asian
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South Asian
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European (Finnish)
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BaseQRankSum
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FS
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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Latino
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East Asian
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Other
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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MQ
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QD
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FS
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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African
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European (Finnish)
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MQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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SIO_000300: 7.72e0

DP
type: SiteQuality
SIO_000300: 4.020783e6

QD
type: SiteQuality
SIO_000300: 9.99e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2517
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43014
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2367
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.72e0

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.44e-1

DP
type: SiteQuality
SIO_000300: 4.020783e6

QD
type: SiteQuality
SIO_000300: 9.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

GenotypeDepth
all individuals: 1110
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4638
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2528
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2371
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
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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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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.078e0

FS
type: SiteQuality
SIO_000300: 8.257999999999999e0

DP
type: SiteQuality
SIO_000300: 4.021388e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.565e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.678e1

GenotypeQuality
all individuals: 2378
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 43019
bin: 9.75e1
variant carriers: 13

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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: 10
allele frequency: 1.498351813005694e-4
allele num: 66740
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.341e1

DP
type: SiteQuality
SIO_000300: 4.023802e6

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.23e-1

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2805
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43014
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4643
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

QD
type: SiteQuality
SIO_000300: 1.252e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-1

DP
type: SiteQuality
SIO_000300: 4.0217e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.39e-1

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 4.0217e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.252e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2497
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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
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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: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.54e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

QD
type: SiteQuality
SIO_000300: 1.412e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

FS
type: SiteQuality
SIO_000300: 1.094e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

DP
type: SiteQuality
SIO_000300: 4.022048e6

GenotypeQuality
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bin: 4.25e1
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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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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bin: 9.75e1
variant carriers: 11

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.498351813005694e-4
allele num: 66740
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: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 7.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.54e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.412e1

DP
type: SiteQuality
SIO_000300: 4.022048e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 9

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

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

European (Non-Finnish)
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allele frequency: 4.495055439017081e-5
allele num: 66740
num of homozygotes: 0

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

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

African
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allele count: 6
allele frequency: 5.765904285988853e-4
allele num: 10406
num of homozygotes: 0

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

DP
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
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SIO_000300: 3.88e0

BaseQRankSum
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SIO_000300: 4.24e0

ClippingRankSum
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SIO_000300: -6.860000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 908
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
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

South Asian
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MQRankSum
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SIO_000300: 1.12e0

ReadPosRankSum
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QD
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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VQSLOD
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SIO_000300: -1.215e0

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

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

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

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

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
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num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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FS
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MQ
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ReadPosRankSum
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InbreedingCoeff
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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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
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
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

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

European (Non-Finnish)
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num of homozygotes: 0

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

South Asian
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Other
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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DP
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InbreedingCoeff
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ClippingRankSum
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QD
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BaseQRankSum
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MQRankSum
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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Latino
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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European (Non-Finnish)
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East Asian
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allele frequency: 0.0e0
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African
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Latino
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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BaseQRankSum
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ClippingRankSum
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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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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
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Other
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South Asian
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East Asian
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African
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ClippingRankSum
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FS
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QD
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BaseQRankSum
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DP
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InbreedingCoeff
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

East Asian
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allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Other
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South Asian
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allele count: 0
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
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SIO_000300: -3.92e-1

FS
type: SiteQuality
SIO_000300: 7.201e0

VQSLOD
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DP
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ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
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SIO_000300: 1.441e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 45
allele frequency: 6.742785219814798e-4
allele num: 66738
num of homozygotes: 1

European (Finnish)
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allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8638
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African
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allele frequency: 0.0e0
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Latino
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allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

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

VQSLOD
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SIO_000300: 4.36e0

BaseQRankSum
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FS
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MQRankSum
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DP
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: 8.64e-1

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

African
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allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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Other
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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FS
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ClippingRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Non-Finnish)
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allele frequency: 2.377955587521352e-2
allele num: 66738
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Latino
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allele frequency: 7.436873054306468e-2
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African
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South Asian
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allele count: 1329
allele frequency: 8.050642112914951e-2
allele num: 16508
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European (Finnish)
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allele count: 470
allele frequency: 7.106138494103417e-2
allele num: 6614
num of homozygotes: 17

VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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MQ
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FS
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ClippingRankSum
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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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African
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East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
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South Asian
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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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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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QD
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BaseQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 5.97e1

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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QD
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ClippingRankSum
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MQ
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DP
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
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ReadPosRankSum
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QD
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MQ
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DP
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66732
num of homozygotes: 0

European (Finnish)
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East Asian
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allele frequency: 1.503585473051122e-3
allele num: 8646
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Latino
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African
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South Asian
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VQSLOD
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MQRankSum
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QD
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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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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variant carriers: 0

European (Non-Finnish)
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European (Finnish)
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African
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allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
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African
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Other
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South Asian
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European (Finnish)
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East Asian
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MQ
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QD
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FS
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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East Asian
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African
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Latino
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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ClippingRankSum
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QD
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQ
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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InbreedingCoeff
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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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Other
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South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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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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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
allele num: 66736
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DP
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FS
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VQSLOD
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MQ
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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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Latino
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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BaseQRankSum
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FS
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QD
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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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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Latino
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Other
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allele frequency: 0.0e0
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European (Finnish)
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Other
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Latino
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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MQ
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MQRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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Other
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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DP
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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FS
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BaseQRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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South Asian
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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Other
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European (Non-Finnish)
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South Asian
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European (Finnish)
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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MQ
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ClippingRankSum
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SIO_000300: -8.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.145e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3034
bin: 9.25e1
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GenotypeQuality
all individuals: 2567
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
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: 11560
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: 8650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.735e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.630000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.844e0

VQSLOD
type: SiteQuality
SIO_000300: 5.34e-1

FS
type: SiteQuality
SIO_000300: 3.965e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e0

DP
type: SiteQuality
SIO_000300: 3.272218e6

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

South Asian
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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: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.473e-1

QD
type: SiteQuality
SIO_000300: 1.659e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

DP
type: SiteQuality
SIO_000300: 3.272006e6

FS
type: SiteQuality
SIO_000300: 9.039999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.890000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.25e-1

QD
type: SiteQuality
SIO_000300: 1.986e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQ
type: SiteQuality
SIO_000300: 6.024e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
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SIO_000300: -1.532e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 3.270637e6

FS
type: SiteQuality
SIO_000300: 4.625e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e0

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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bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998320940273447e-5
allele num: 66704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 1.307e1

VQSLOD
type: SiteQuality
SIO_000300: -1.589e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.02e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 1.0697e1

DP
type: SiteQuality
SIO_000300: 3.266212e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
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
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

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

East Asian
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allele count: 5
allele frequency: 5.791058605513088e-4
allele num: 8634
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.528e1

VQSLOD
type: SiteQuality
SIO_000300: 4.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.265223e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
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
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.702e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.321e0

ReadPosRankSum
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.262443e6

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: 0

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.704968944099378e-5
allele num: 10304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.118e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.968e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

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

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

DP
type: SiteQuality
SIO_000300: 3.261735e6

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: 1

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

African
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: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

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

MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.259389e6

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
all individuals: 2706
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GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 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: 10266
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.48e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.253222e6

VQSLOD
type: SiteQuality
SIO_000300: -2.372e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.403e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41533
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2698
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2521
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4013
bin: 6.25e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 1.2192e1

MQ
type: SiteQuality
SIO_000300: 5.777e1

VQSLOD
type: SiteQuality
SIO_000300: -4.673e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e0

DP
type: SiteQuality
SIO_000300: 3.252953e6

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.932e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.264e0